Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NFKBIE	4794	broad.mit.edu	37	6	44228230	44228230	+	Silent	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr6:44228230G>C	ENST00000275015.5	-	4	1154	c.1155C>G	c.(1153-1155)ctC>ctG	p.L385L		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	385					cytoplasmic sequestering of transcription factor		protein binding	p.L385L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCAATTCCATGAGTGGTTGGT	0.587000													4	78					0	0	0.009096	0	0
ABCC9	10060	broad.mit.edu	37	12	22068801	22068801	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:22068801T>A	ENST00000261200.4	-	5	616	c.617A>T	c.(616-618)gAa>gTa	p.E206V	ABCC9_ENST00000345162.2_Missense_Mutation_p.E206V|ABCC9_ENST00000261201.4_Missense_Mutation_p.E206V	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	206					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.E206V(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTGGAGGTCTTCAGGAGGCTT	0.363000													13	66					0	0	0.016723	0	0
EEF1A2	1917	broad.mit.edu	37	20	62121989	62121989	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr20:62121989G>A	ENST00000217182.3	-	6	1037	c.872C>T	c.(871-873)tCa>tTa	p.S291L	EEF1A2_ENST00000298049.7_Missense_Mutation_p.S291L	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	291						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.S291L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CATCTCCACTGACTTCACCTC	0.637000													16	69					0	0	0.024245	0	0
PCLO	27445	broad.mit.edu	37	7	82584974	82584974	+	Silent	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr7:82584974A>G	ENST00000423517.2	-	5	5632	c.5295T>C	c.(5293-5295)ccT>ccC	p.P1765P	PCLO_ENST00000333891.8_Silent_p.P1765P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1696					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P1765P(2)|p.P1696P(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAGGCAAAAGAGGGCCATGTG	0.438000													16	183					0	0	0.028581	0	0
SELV	348303	broad.mit.edu	37	19	40009424	40009424	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:40009424C>T	ENST00000423711.1	+	4	979	c.879C>T	c.(877-879)caC>caT	p.H293H	SELV_ENST00000335426.4_Silent_p.H293H			P59797	SELV_HUMAN		293					cell redox homeostasis		selenium binding	p.H293H(1)		breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCCGAATCACCTACTCTTTG	0.577000													14	64					0	0	0.033300	0	0
PON1	5444	broad.mit.edu	37	7	94940832	94940832	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr7:94940832A>G	ENST00000222381.3	-	5	659	c.428T>C	c.(427-429)tTg>tCg	p.L143S	PON1_ENST00000542556.1_Missense_Mutation_p.L143S	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	143					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.L143S(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AAATTTAAACAACTCCACTGT	0.358000													11	125					0	0	0.010729	0	0
GOSR2	9570	broad.mit.edu	37	17	45009463	45009463	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr17:45009463G>T	ENST00000415811.2	+	4	289	c.234G>T	c.(232-234)caG>caT	p.Q78H	GOSR2_ENST00000439730.2_Missense_Mutation_p.Q78H|GOSR2_ENST00000393456.2_Missense_Mutation_p.Q78H|GOSR2_ENST00000576910.2_Missense_Mutation_p.Q78H|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.Q78H|GOSR2_ENST00000225567.4_Missense_Mutation_p.Q78H|GOSR2_ENST00000575949.1_Missense_Mutation_p.Q78H	NM_001012511.1	NP_001012529.1	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	78					cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity	p.Q78_H79>HY(3)		kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			ATGATGTCCAGCACCTGCAGA	0.527000													11	121					1.5842e-08	1.97268e-08	0.016723	1	0
ZNF383	163087	broad.mit.edu	37	19	37734245	37734245	+	Silent	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:37734245G>A	ENST00000589413.1	+	8	1690	c.1107G>A	c.(1105-1107)aaG>aaA	p.K369K	ZNF383_ENST00000590503.1_Silent_p.K369K|ZNF383_ENST00000352998.3_Silent_p.K369K			Q8NA42	ZN383_HUMAN	zinc finger protein 383	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.K369K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGATTGTAAGGAATGTGGAA	0.443000													12	69					0	0	0.013537	0	0
ARVCF	421	broad.mit.edu	37	22	19965107	19965107	+	Silent	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr22:19965107C>A	ENST00000263207.3	-	9	1992	c.1701G>T	c.(1699-1701)tcG>tcT	p.S567S	ARVCF_ENST00000406522.1_Silent_p.S504S|ARVCF_ENST00000406259.1_Silent_p.S567S|ARVCF_ENST00000401994.1_Silent_p.S504S|ARVCF_ENST00000344269.3_Silent_p.S504S	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	567					cell adhesion|multicellular organismal development		protein binding	p.S567S(1)		NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					AGTTCTCCACCGACTGCAGGG	0.677000													10	38					2.17888e-05	2.55072e-05	0.006214	1	0
SBDS	51119	broad.mit.edu	37	7	66459324	66459324	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr7:66459324T>C	ENST00000246868.2	-	2	316	c.133A>G	c.(133-135)Aaa>Gaa	p.K45E		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	45					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	p.K45E(1)		cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TCGAGGTCTTTTTCCCTTGTG	0.413000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				22	116					0	0	0.027356	0	0
POLE	5426	broad.mit.edu	37	12	133219533	133219533	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:133219533T>G	ENST00000320574.5	-	36	4644	c.4601A>C	c.(4600-4602)cAc>cCc	p.H1534P	POLE_ENST00000535270.1_Missense_Mutation_p.H1507P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1534					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.H1534P(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GAGGAGGCCGTGCTCTGCTGA	0.642000								DNA polymerases (catalytic subunits)					10	35					0	0	0.006214	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435376	7435376	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr4:7435376C>T	ENST00000319098.4	-	1	1324	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	411	Saposin B-type 4.				sphingolipid metabolic process	extracellular region|lysosome		p.E411K(1)|p.E143K(1)		lung(4)	4						CTCTTGCTCTCCAAGTTGTGG	0.602000													5	15					0	0	0.014758	0	0
FARSB	10056	broad.mit.edu	37	2	223513485	223513485	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:223513485C>G	ENST00000281828.6	-	2	351	c.88G>C	c.(88-90)Gaa>Caa	p.E30Q	FARSB_ENST00000536361.1_5'UTR	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	30					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	p.E30Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	AGACCAAATTCAAAACATAGT	0.308000													17	104					0	0	0.038395	0	0
RBL1	5933	broad.mit.edu	37	20	35627292	35627292	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr20:35627292T>G	ENST00000373664.3	-	22	3143	c.3077A>C	c.(3076-3078)cAg>cCg	p.Q1026P		NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	1026					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	p.Q1026P(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTTGGTTCTCTGCTCACCTTG	0.438000													13	127					0	0	0.016723	0	0
PRDM11	56981	broad.mit.edu	37	11	45241290	45241290	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr11:45241290C>G	ENST00000263765.4	+	7	1075	c.826C>G	c.(826-828)Cac>Gac	p.H276D	PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000424263.2_Missense_Mutation_p.H242D|PRDM11_ENST00000530656.1_Missense_Mutation_p.H276D|CTD-2560E9.3_ENST00000527450.1_RNA			Q9NQV5	PRD11_HUMAN	PR domain containing 11	276								p.H276D(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GGAAACCATTCACCGCAACCT	0.627000													3	15					0	0	0.004672	0	0
C2CD5	9847	broad.mit.edu	37	12	22623828	22623828	+	Silent	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:22623828G>C	ENST00000333957.4	-	21	2631	c.2376C>G	c.(2374-2376)gtC>gtG	p.V792V	C2CD5_ENST00000544930.1_Silent_p.V607V|C2CD5_ENST00000536386.1_Silent_p.V794V|C2CD5_ENST00000545552.1_Silent_p.V805V|C2CD5_ENST00000542676.1_Silent_p.V792V|C2CD5_ENST00000396028.2_Silent_p.V783V|C2CD5_ENST00000446597.1_Silent_p.V792V	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5									p.V607V(1)|p.V792V(1)									AAGTGATTGCGACTGCCGTGA	0.338000													23	63					0	0	0.014323	0	0
ANKRD7	56311	broad.mit.edu	37	7	117876904	117876904	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr7:117876904G>T	ENST00000357099.4	+	6	869	c.696G>T	c.(694-696)caG>caT	p.Q232H	ANKRD7_ENST00000265224.4_Missense_Mutation_p.Q212H|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000417525.1_Missense_Mutation_p.Q159H|ANKRD7_ENST00000433239.1_Missense_Mutation_p.Q159H			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	212					male gonad development			p.Q232H(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TTCTTCTTCAGCAAGGTGTGG	0.393000													58	192					5.47352e-35	7.86819e-35	0.014410	1	0
DSCAML1	57453	broad.mit.edu	37	11	117308126	117308126	+	Splice_Site	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr11:117308126C>T	ENST00000321322.6	-	26	4614		c.e26-1		DSCAML1_ENST00000527706.1_Splice_Site	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1						axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.?(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AAGGAGGGCTCTGGCAGGCCG	0.597000													11	50					0	0	0.008291	0	0
SOGA2	23255	broad.mit.edu	37	18	8824821	8824821	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr18:8824821G>C	ENST00000359865.3	+	15	3455	c.3313G>C	c.(3313-3315)Gac>Cac	p.D1105H	SOGA2_ENST00000518815.1_Missense_Mutation_p.D430H|SOGA2_ENST00000306285.7_Missense_Mutation_p.D430H|SOGA2_ENST00000306329.11_Missense_Mutation_p.D1424H|SOGA2_ENST00000517570.1_Missense_Mutation_p.D1064H|SOGA2_ENST00000400050.3_Missense_Mutation_p.D1064H	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1415								p.D1105H(1)									GTCTCCAGACGACCTCAAGTA	0.607000													13	42					0	0	0.013537	0	0
AKR1C3	8644	broad.mit.edu	37	10	5141579	5141579	+	Missense_Mutation	SNP	C	C	T	rs35575889	byFrequency	TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr10:5141579C>T	ENST00000380554.3	+	5	1160	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	AKR1C3_ENST00000439082.2_Missense_Mutation_p.R51C|AKR1C3_ENST00000605149.1_Missense_Mutation_p.R147C	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	170			R -> C (in dbSNP:rs35575889).		prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.R170C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	AAACTTCAACCGCAGGCAGCT	0.512000													33	65					0	0	0.012213	0	0
CELSR1	9620	broad.mit.edu	37	22	46795764	46795764	+	Silent	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr22:46795764G>A	ENST00000262738.3	-	10	5261	c.5262C>T	c.(5260-5262)caC>caT	p.H1754H		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1754	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	p.H1754H(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGGAGGGGCCGTGGGACACCT	0.547000													14	31					0	0	0.028581	0	0
TMEM39B	55116	broad.mit.edu	37	1	32557333	32557333	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:32557333C>G	ENST00000456834.2	+	5	575	c.493C>G	c.(493-495)Ctt>Gtt	p.L165V	TMEM39B_ENST00000427288.1_Silent_p.L101L|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000336294.5_Silent_p.L216L|TMEM39B_ENST00000373634.4_Silent_p.L17L			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	0						integral to membrane		p.L216L(1)|p.L89L(1)		endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGACAAGCCTCTTCAACCACA	0.627000													9	26					0	0	0.006214	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22828995	22828995	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr10:22828995T>C	ENST00000376573.4	-	9	1273	c.1045A>G	c.(1045-1047)Agg>Ggg	p.R349G	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.R290G|PIP4K2A_ENST00000323883.7_Missense_Mutation_p.R209G	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	349	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	p.R349G(1)		endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						ACCTCCTTCCTAGGCGAGTCT	0.493000													12	113					0	0	0.013537	0	0
RYR3	6263	broad.mit.edu	37	15	34030761	34030761	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr15:34030761C>T	ENST00000389232.4	+	50	7696	c.7626C>T	c.(7624-7626)ttC>ttT	p.F2542F	RYR3_ENST00000415757.3_Silent_p.F2542F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2542	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.F2542F(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGAAGCTTTTCTGGGGGATTT	0.473000											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	60					0	0	0.012319	0	0
WDR36	134430	broad.mit.edu	37	5	110462460	110462460	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr5:110462460C>T	ENST00000506538.2	+	23	3308	c.2735C>T	c.(2734-2736)cCa>cTa	p.P912L	WDR36_ENST00000513710.2_Missense_Mutation_p.P912L	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	912					response to stimulus|rRNA processing|visual perception	small-subunit processome		p.P912L(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CCTTCAGAGCCAGTACTCCTA	0.308000													13	66					0	0	0.020292	0	0
MYH4	4622	broad.mit.edu	37	17	10360813	10360813	+	Silent	SNP	A	A	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr17:10360813A>T	ENST00000255381.2	-	16	1931	c.1821T>A	c.(1819-1821)acT>acA	p.T607T	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	607	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T607T(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCCCACCACAGTCTCATTCA	0.527000													16	59					0	0	0.024245	0	0
QPCTL	54814	broad.mit.edu	37	19	46198725	46198725	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:46198725G>T	ENST00000012049.5	+	3	603	c.382G>T	c.(382-384)Gca>Tca	p.A128S	QPCTL_ENST00000366382.4_Intron	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	128				Missing (in Ref. 4; AAH11553).	peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding	p.A128S(1)		breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		GTCCCTGACAGCAGGTTGGCA	0.662000													24	76					3.28513e-13	4.39892e-13	0.021523	1	0
OR4K1	79544	broad.mit.edu	37	14	20404200	20404200	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr14:20404200C>T	ENST00000285600.4	+	1	434	c.375C>T	c.(373-375)gcC>gcT	p.A125A		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A125D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GATTTATAGCCATATGTAAGC	0.448000													27	191					0	0	0.030593	0	0
KCND3	3752	broad.mit.edu	37	1	112319865	112319865	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:112319865C>G	ENST00000369697.1	-	5	1561	c.1492G>C	c.(1492-1494)Gag>Cag	p.E498Q	KCND3_ENST00000315987.2_Missense_Mutation_p.E517Q|KCND3_ENST00000302127.4_Missense_Mutation_p.E498Q			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	517						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.E498Q(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CAGTTCTGCTCAAACATCTGC	0.532000													21	150					0	0	0.010504	0	0
CCDC178	374864	broad.mit.edu	37	18	30803079	30803079	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr18:30803079T>C	ENST00000383096.3	-	18	2105	c.1923A>G	c.(1921-1923)atA>atG	p.I641M	CCDC178_ENST00000300227.8_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.I641M|CCDC178_ENST00000406524.2_Missense_Mutation_p.I641M|CCDC178_ENST00000579947.1_Missense_Mutation_p.I641M|CCDC178_ENST00000402325.1_Missense_Mutation_p.I641M|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.I641M					coiled-coil domain containing 178									p.I641M(1)									CCTCAGTTTCTATTAATGCAT	0.259000													5	41					0	0	0.014758	0	0
ABCC9	10060	broad.mit.edu	37	12	22048235	22048235	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:22048235C>A	ENST00000261200.4	-	11	1632	c.1633G>T	c.(1633-1635)Gca>Tca	p.A545S	ABCC9_ENST00000345162.2_Missense_Mutation_p.A545S|ABCC9_ENST00000261201.4_Missense_Mutation_p.A545S	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	545	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.A545S(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATGGGAATTGCTGCATTCATG	0.308000													30	86					0.00209593	0.0022514	0.045705	1	0
LRP4	4038	broad.mit.edu	37	11	46914542	46914542	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr11:46914542G>A	ENST00000378623.1	-	13	1921	c.1679C>T	c.(1678-1680)gCc>gTc	p.A560V		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	560					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.A560V(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GGGATGCAAGGCAATGGCCCG	0.587000													3	9					0	0	0.009096	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255003	9255003	+	Missense_Mutation	SNP	C	C	G	rs148294667	byFrequency	TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr18:9255003C>G	ENST00000383440.2	+	8	1926	c.1669C>G	c.(1669-1671)Ctt>Gtt	p.L557V	ANKRD12_ENST00000400020.3_Missense_Mutation_p.L557V|ANKRD12_ENST00000262126.3_Missense_Mutation_p.L580V	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	580						nucleus		p.L580V(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACAGCCTGATCTTGTTCGGTA	0.333000													22	100					0	0	0.010504	0	0
TEX15	56154	broad.mit.edu	37	8	30694993	30694993	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr8:30694993G>A	ENST00000256246.2	-	3	7732	c.7658C>T	c.(7657-7659)tCt>tTt	p.S2553F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2553								p.S2553F(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGGTTCTGGAGAAGTCATGCA	0.353000													30	78					0	0	0.037714	0	0
OR10G8	219869	broad.mit.edu	37	11	123901236	123901236	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr11:123901236G>T	ENST00000431524.1	+	1	940	c.907G>T	c.(907-909)Gac>Tac	p.D303Y		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D303Y(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAAGCTGAAAGACAAAGTAGC	0.448000													11	62					6.40141e-05	7.40518e-05	0.010729	1	0
HHIPL2	79802	broad.mit.edu	37	1	222716993	222716993	+	Missense_Mutation	SNP	C	C	A	rs148477475	byFrequency	TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:222716993C>A	ENST00000343410.6	-	2	918	c.860G>T	c.(859-861)cGc>cTc	p.R287L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	287					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.R287L(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ATAGAACTTGCGATTGTGGCG	0.478000													47	188					1.89013e-27	2.68742e-27	0.014410	1	0
TTC5	91875	broad.mit.edu	37	14	20757805	20757805	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr14:20757805G>T	ENST00000258821.3	-	10	1360	c.1304C>A	c.(1303-1305)tCg>tAg	p.S435*		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	435					DNA repair	cytoplasm|nucleus	binding	p.S435*(1)|p.S435W(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CTGTGGTCGCGATGCCACTGT	0.567000													6	23					0.00116845	0.00128332	0.021553	1	0
CSF3R	1441	broad.mit.edu	37	1	36939048	36939048	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:36939048G>A	ENST00000373103.1	-	6	1208	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	CSF3R_ENST00000331941.5_Missense_Mutation_p.P221S|CSF3R_ENST00000338937.5_Missense_Mutation_p.P221S|CSF3R_ENST00000373106.1_Missense_Mutation_p.P221S|CSF3R_ENST00000361632.4_Missense_Mutation_p.P221S|CSF3R_ENST00000440588.2_Missense_Mutation_p.P221S|CSF3R_ENST00000373104.1_Missense_Mutation_p.P221S|CSF3R_ENST00000418048.2_Missense_Mutation_p.P221S	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	221	Fibronectin type-III 1.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	p.P221S(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	ACATCCATGGGATCAAGACAC	0.552000													4	35					0	0	0.009096	0	0
CPZ	8532	broad.mit.edu	37	4	8607764	8607764	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr4:8607764C>A	ENST00000382480.2	+	5	1147	c.347C>A	c.(346-348)gCg>gAg	p.A116E	CPZ_ENST00000360986.4_Missense_Mutation_p.A253E|CPZ_ENST00000315782.6_Missense_Mutation_p.A242E|CPZ_ENST00000429646.2_5'UTR	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	253	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.A253V(1)|p.A253E(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AACGAGGTGGCGGGCCGGGAG	0.607000													6	45					8.12818e-05	9.37499e-05	0.029380	1	0
PARD3B	117583	broad.mit.edu	37	2	205829890	205829890	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:205829890G>A	ENST00000406610.2	+	3	445	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	PARD3B_ENST00000351153.1_Missense_Mutation_p.E80K|PARD3B_ENST00000349953.3_Missense_Mutation_p.E80K|PARD3B_ENST00000462231.1_Missense_Mutation_p.E80K|PARD3B_ENST00000358768.2_Missense_Mutation_p.E80K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	80					cell cycle|cell division	endomembrane system|tight junction		p.E80K(2)|p.E81K(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGCTGTGTTTGAAGAACAAGA	0.468000													4	24					0	0	0.014758	0	0
HTR1E	3354	broad.mit.edu	37	6	87725133	87725133	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr6:87725133G>C	ENST00000305344.4	+	2	784	c.81G>C	c.(79-81)atG>atC	p.M27I	HTR1E_ENST00000369584.1_Missense_Mutation_p.M27I	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	27					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.M27I(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCATTTGCATGACTCTGGTGG	0.493000													5	34					0	0	0.014758	0	0
CSMD3	114788	broad.mit.edu	37	8	113812417	113812417	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr8:113812417G>T	ENST00000297405.5	-	13	2190	c.1946C>A	c.(1945-1947)tCt>tAt	p.S649Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.S649Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.S545Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.S609Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	649	CUB 3.					integral to membrane|plasma membrane		p.S609Y(1)|p.S649Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAAACCAACAGATCCAACACT	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	141					1.37522e-17	1.89335e-17	0.043863	1	0
HELB	92797	broad.mit.edu	37	12	66725408	66725408	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:66725408C>G	ENST00000247815.4	+	12	3204	c.3145C>G	c.(3145-3147)Cca>Gca	p.P1049A		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1049					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.P1049A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TGATGAAAGTCCAAGCAAAAT	0.363000													11	115					0	0	0.010729	0	0
HIGD2B	123346	broad.mit.edu	37	15	72968456	72968456	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr15:72968456C>A	ENST00000311755.3	-	3	783	c.260G>T	c.(259-261)gGc>gTc	p.G87V						HIG1 hypoxia inducible domain family, member 2B									p.G87V(1)									AATGGTGAAGCCCTGGGCGGC	0.572000													4	8					0.00909568	0.00956024	0.009096	1	0
NECAB2	54550	broad.mit.edu	37	16	84035950	84035950	+	Silent	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr16:84035950G>A	ENST00000565691.1	+	11	1633	c.911G>A	c.(910-912)tGa>tAa	p.*304*	NECAB2_ENST00000305202.4_Silent_p.*387*			Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	0	ABM.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding	p.*387*(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						GGACGGGACTGACAGCCTCCC	0.557000													31	86					0	0	0.045705	0	0
GOSR2	9570	broad.mit.edu	37	17	45009464	45009464	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr17:45009464C>T	ENST00000415811.2	+	4	290	c.235C>T	c.(235-237)Cac>Tac	p.H79Y	GOSR2_ENST00000439730.2_Missense_Mutation_p.H79Y|GOSR2_ENST00000393456.2_Missense_Mutation_p.H79Y|GOSR2_ENST00000576910.2_Missense_Mutation_p.H79Y|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.H79Y|GOSR2_ENST00000225567.4_Missense_Mutation_p.H79Y|GOSR2_ENST00000575949.1_Missense_Mutation_p.H79Y	NM_001012511.1	NP_001012529.1	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	79					cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity	p.Q78_H79>HY(3)		kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			TGATGTCCAGCACCTGCAGAC	0.527000													12	121					0	0	0.020292	0	0
VPS8	23355	broad.mit.edu	37	3	184654067	184654067	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:184654067G>T	ENST00000437079.3	+	35	3103	c.2932G>T	c.(2932-2934)Gag>Tag	p.E978*	VPS8_ENST00000446204.2_Nonsense_Mutation_p.E886*|VPS8_ENST00000287546.4_Nonsense_Mutation_p.E978*|VPS8_ENST00000436792.2_Nonsense_Mutation_p.E976*	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	978							zinc ion binding	p.E978*(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TAAAGCTGCGGAGCTGGTTGC	0.398000													6	15					0.0381472	0.0395638	0.038147	1	0
CMAS	55907	broad.mit.edu	37	12	22215287	22215287	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:22215287G>A	ENST00000229329.2	+	7	1163	c.1033G>A	c.(1033-1035)Gtc>Atc	p.V345I		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	345					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity	p.V345I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CAAAATGGAAGTCAGTGTATC	0.383000													16	77					0	0	0.033300	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149716	45149716	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr13:45149716T>A	ENST00000458659.2	-	1	985	c.495A>T	c.(493-495)ttA>ttT	p.L165F	TSC22D1_ENST00000501704.2_Missense_Mutation_p.L165F	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	165					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.L165F(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CGGGCTCCCCTAAGTCAGTAG	0.537000													19	51					0	0	0.043863	0	0
KLHL1	57626	broad.mit.edu	37	13	70281786	70281786	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr13:70281786A>T	ENST00000377844.4	-	10	2917	c.2158T>A	c.(2158-2160)Tat>Aat	p.Y720N	KLHL1_ENST00000545028.1_Missense_Mutation_p.Y527N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	720					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.Y720N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGTGGGTCATAGGATTCCATA	0.428000													23	74					0	0	0.018920	0	0
TRIM58	25893	broad.mit.edu	37	1	248028155	248028155	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:248028155T>C	ENST00000366481.3	+	3	713	c.665T>C	c.(664-666)cTg>cCg	p.L222P		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	222						intracellular	zinc ion binding	p.L222P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGAGCCGGCTGGTCCAGCAG	0.692000													4	14					0	0	0.014758	0	0
PIK3R4	30849	broad.mit.edu	37	3	130447403	130447403	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:130447403G>C	ENST00000356763.3	-	6	2268	c.1711C>G	c.(1711-1713)Cag>Gag	p.Q571E		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	571					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.Q571E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTGGCTTTCTGACGTCCAAAG	0.368000													9	80					0	0	0.004482	0	0
TRIM41	90933	broad.mit.edu	37	5	180651801	180651801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr5:180651801C>T	ENST00000315073.5	+	1	1512	c.802C>T	c.(802-804)Cag>Tag	p.Q268*	TRIM41_ENST00000351937.5_Nonsense_Mutation_p.Q268*|CTC-338M12.7_ENST00000499096.2_RNA	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	268						cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.Q268*(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGGTGGTGCAGGAGTACAA	0.542000													10	38					0	0	0.006214	0	0
ZNF449	203523	broad.mit.edu	37	X	134494262	134494262	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:134494262G>T	ENST00000339249.4	+	5	958	c.818G>T	c.(817-819)tGg>tTg	p.W273L		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	273					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W273L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GAAAATCAATGGGAAACCCCC	0.418000													17	144					2.35188e-11	3.08586e-11	0.038395	1	0
WASF2	10163	broad.mit.edu	37	1	27742500	27742500	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:27742500C>T	ENST00000430629.2	-	5	731	c.516G>A	c.(514-516)atG>atA	p.M172I	WASF2_ENST00000536657.1_Missense_Mutation_p.M172I	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	172					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	p.M172I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TCTTCTCTTTCATGATATCCT	0.473000													12	100					0	0	0.010729	0	0
HTR2A	3356	broad.mit.edu	37	13	47469796	47469796	+	Silent	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr13:47469796G>T	ENST00000378688.4	-	1	377	c.246C>A	c.(244-246)gcC>gcA	p.A82A	HTR2A_ENST00000543956.1_Intron|HTR2A_ENST00000542664.1_Silent_p.A82A			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	82					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.A82A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TAATCACTACGGCTGTCAGTA	0.453000													23	78					9.57634e-11	1.23576e-10	0.018920	1	0
FKBP15	23307	broad.mit.edu	37	9	115933898	115933898	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr9:115933898G>A	ENST00000238256.3	-	24	2738	c.2621C>T	c.(2620-2622)tCt>tTt	p.S874F		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	874					endocytosis|protein folding	axon|early endosome	actin binding	p.S899F(1)|p.S874F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTCAACCCCAGACATCTGGGA	0.458000													3	16					0	0	0.004672	0	0
OR51E2	81285	broad.mit.edu	37	11	4703272	4703272	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr11:4703272C>A	ENST00000396950.3	-	2	909	c.670G>T	c.(670-672)Gtt>Ttt	p.V224F		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V224F(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGTTGCAGAACCGTTCGTATT	0.493000													9	35					0.000274275	0.000308165	0.004482	1	0
SMC6	79677	broad.mit.edu	37	2	17897451	17897451	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:17897451C>G	ENST00000448223.2	-	15	1696	c.1427G>C	c.(1426-1428)cGa>cCa	p.R476P	SMC6_ENST00000402989.1_Missense_Mutation_p.R476P|SMC6_ENST00000381272.4_Missense_Mutation_p.R502P|SMC6_ENST00000351948.4_Missense_Mutation_p.R476P	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	476	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	p.R476P(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCTTTTGAGTCGATCAGTTTT	0.378000													22	147					0	0	0.021523	0	0
MMP17	4326	broad.mit.edu	37	12	132334445	132334445	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:132334445T>G	ENST00000360564.1	+	9	1405	c.1303T>G	c.(1303-1305)Ttc>Gtc	p.F435V	MMP17_ENST00000535004.1_Intron|MMP17_ENST00000535291.1_Missense_Mutation_p.F351V	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	435	Hemopexin-like 3.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.F435V(1)		endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CGACGCTGCCTTCTCCTGGGC	0.597000													33	122					0	0	0.019004	0	0
BPTF	2186	broad.mit.edu	37	17	65924679	65924679	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr17:65924679C>T	ENST00000321892.4	+	18	6399	c.6338C>T	c.(6337-6339)aCc>aTc	p.T2113I	BPTF_ENST00000424123.3_Missense_Mutation_p.T1974I|BPTF_ENST00000306378.6_Missense_Mutation_p.T1987I|BPTF_ENST00000335221.5_Missense_Mutation_p.T2113I			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2113					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.T1987I(1)|p.T2113I(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTCATCAAACCTTTGCTACA	0.358000													10	68					0	0	0.010729	0	0
UNG	7374	broad.mit.edu	37	12	109536251	109536251	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:109536251G>C	ENST00000336865.2	+	1	329	c.120G>C	c.(118-120)aaG>aaC	p.K40N	UNG_ENST00000242576.2_Missense_Mutation_p.K49N	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	49					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity	p.K49N(1)|p.K40N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TCCCAGCCAAGAAGGCCCCGG	0.726000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				5	48					0	0	0.014758	0	0
VN1R2	317701	broad.mit.edu	37	19	53762196	53762196	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:53762196A>T	ENST00000341702.3	+	1	652	c.568A>T	c.(568-570)Acc>Tcc	p.T190S		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	190					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.T190S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CCAGGTGATCACCATCAACCC	0.488000													12	42					0	0	0.013537	0	0
SNHG14	104472715	broad.mit.edu	37	15	25287155	25287155	+	RNA	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr15:25287155G>T	ENST00000552781.1	+	0	328				SNORD109A_ENST00000459128.1_RNA																							TGAGGATGCTGAGGGACTCAT	0.458000													7	35					0.000274275	0.000308165	0.004482	1	0
RUNX2	860	broad.mit.edu	37	6	45480048	45480048	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr6:45480048C>G	ENST00000371438.1	+	6	1283	c.925C>G	c.(925-927)Cag>Gag	p.Q309E	RUNX2_ENST00000541979.1_Missense_Mutation_p.Q377E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q309E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q309E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q295E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q377E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q309E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q295E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	309	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q309E(1)|p.Q377E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTACCTGAGCCAGATGACGTC	0.557000													6	68					0	0	0.029380	0	0
DAPK1	1612	broad.mit.edu	37	9	90255223	90255223	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr9:90255223G>C	ENST00000469640.2	+	8	1015	c.640G>C	c.(640-642)Gcc>Ccc	p.A214P	DAPK1_ENST00000408954.3_Missense_Mutation_p.A214P|DAPK1_ENST00000358077.5_Missense_Mutation_p.A214P|DAPK1_ENST00000491893.1_Missense_Mutation_p.A214P|DAPK1_ENST00000472284.1_Missense_Mutation_p.A214P			P53355	DAPK1_HUMAN	death-associated protein kinase 1	214	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	p.A214P(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCTAAGTGGGGCCTCCCCATT	0.413000									Chronic Lymphocytic Leukemia, Familial Clustering of				25	75					0	0	0.030593	0	0
OR8K3	219473	broad.mit.edu	37	11	56086504	56086504	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr11:56086504G>T	ENST00000312711.1	+	1	722	c.722G>T	c.(721-723)gGa>gTa	p.G241V		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G241V(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCTACCTGTGGAGCCCACCTG	0.443000													9	53					5.4927e-09	6.95031e-09	0.004482	1	0
DSC1	1823	broad.mit.edu	37	18	28714744	28714744	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr18:28714744C>G	ENST00000257197.3	-	12	1928	c.1667G>C	c.(1666-1668)gGc>gCc	p.G556A	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.G556A	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	556	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.G556A(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCAAGATCGGCCAACTAAGAT	0.323000													3	23					0	0	0.004672	0	0
MTBP	27085	broad.mit.edu	37	8	121457668	121457668	+	Translation_Start_Site	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr8:121457668T>A	ENST00000305949.1	+	0	3					NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa						cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TCTGTTTGGATGTGGAAGCCG	0.557000													11	97					0	0	0.020292	0	0
NR2C1	7181	broad.mit.edu	37	12	95445612	95445612	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:95445612C>T	ENST00000333003.5	-	8	1221	c.891G>A	c.(889-891)atG>atA	p.M297I	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.M297I|NR2C1_ENST00000330677.7_Missense_Mutation_p.M297I	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	297					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AGCTTTCAATCATAGACATTT	0.338000													9	65					0	0	0.010729	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611772	42611772	+	Silent	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr8:42611772G>A	ENST00000276410.2	-	5	925	c.570C>T	c.(568-570)atC>atT	p.I190I	CHRNA6_ENST00000534622.1_Silent_p.I175I	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	190						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.I190I(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTGATCCAATGATTAGAAGAT	0.373000													43	109					0	0	0.030466	0	0
NLRP14	338323	broad.mit.edu	37	11	7059931	7059931	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr11:7059931G>A	ENST00000299481.4	+	2	460	c.114G>A	c.(112-114)atG>atA	p.M38I		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	38	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.M38I(2)|p.M38_E39>I*(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGGAGACCATGGAACCTGAGC	0.433000													7	60					0	0	0.016723	0	0
OR5W2	390148	broad.mit.edu	37	11	55681794	55681794	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr11:55681794T>C	ENST00000344514.1	-	1	264	c.265A>G	c.(265-267)Aac>Gac	p.N89D		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N89D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATTGACTTGTTCTTGGCAAGT	0.448000													17	55					0	0	0.033300	0	0
KCNK15	60598	broad.mit.edu	37	20	43378982	43378982	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr20:43378982G>C	ENST00000372861.3	+	2	627	c.496G>C	c.(496-498)Gcg>Ccg	p.A166P		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	166						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.A166P(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				CGGGCTGCTGGCGTGTGCCGC	0.687000													2	12					0	0	0.004672	0	0
CD80	941	broad.mit.edu	37	3	119248738	119248738	+	Silent	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:119248738A>G	ENST00000264246.3	-	5	1109	c.747T>C	c.(745-747)atT>atC	p.I249I	CD80_ENST00000383669.3_Intron|CD80_ENST00000383668.3_Intron|CD80_ENST00000478182.1_Silent_p.I249I	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	249					interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding	p.I249I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	AGATTAAGGTAATGGCCCAGG	0.403000													9	85					0	0	0.010729	0	0
IGF2R	3482	broad.mit.edu	37	6	160477509	160477509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr6:160477509G>A	ENST00000356956.1	+	20	2896	c.2748G>A	c.(2746-2748)tgG>tgA	p.W916*		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	916					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.W916*(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GTTTCCTGTGGAACACAGAGG	0.522000													8	75					0	0	0.004482	0	0
OGDHL	55753	broad.mit.edu	37	10	50944528	50944528	+	Missense_Mutation	SNP	C	C	T	rs140281439	byFrequency	TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr10:50944528C>T	ENST00000374103.4	-	21	2714	c.2629G>A	c.(2629-2631)Gca>Aca	p.A877T	OGDHL_ENST00000432695.1_Missense_Mutation_p.A668T|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.A820T	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	877					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.A877T(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCCCGTGCTGCGGCCCCATCT	0.632000													15	45					0	0	0.024245	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127977	117127977	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr6:117127977C>T	ENST00000310357.3	-	3	912	c.891G>A	c.(889-891)aaG>aaA	p.K297K	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Silent_p.K297K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	297					response to amino acid stimulus		G-protein coupled receptor activity	p.K297K(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CAATCCACATCTTATTTATAT	0.348000													15	98					0	0	0.020292	0	0
EIF4E2	9470	broad.mit.edu	37	2	233431656	233431656	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:233431656G>T	ENST00000409514.1	+	5	535	c.493G>T	c.(493-495)Gag>Tag	p.E165*	EIF4E2_ENST00000409167.3_Nonsense_Mutation_p.E120*|EIF4E2_ENST00000409098.1_Nonsense_Mutation_p.E165*|EIF4E2_ENST00000258416.3_Nonsense_Mutation_p.E165*|EIF4E2_ENST00000409394.1_Nonsense_Mutation_p.E120*|EIF4E2_ENST00000409495.1_Nonsense_Mutation_p.E165*|EIF4E2_ENST00000409322.1_Nonsense_Mutation_p.E120*			O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	165					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding	p.E165*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGTTGGGGAGGAGATCTGTGG	0.567000													8	63					3.09899e-07	3.76305e-07	0.004482	1	0
ENAM	10117	broad.mit.edu	37	4	71510242	71510242	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr4:71510242C>G	ENST00000396073.3	+	9	3380	c.3099C>G	c.(3097-3099)atC>atG	p.I1033M	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1033					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	p.I1033M(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAGAAGGCATCCAAAGTCAAG	0.428000													24	69					0	0	0.016522	0	0
TIMELESS	8914	broad.mit.edu	37	12	56824676	56824676	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:56824676C>A	ENST00000229201.4	-	9	1049	c.895G>T	c.(895-897)Ggc>Tgc	p.G299C	TIMELESS_ENST00000554616.1_Missense_Mutation_p.G300C|TIMELESS_ENST00000553532.1_Missense_Mutation_p.G300C	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	300					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.G300C(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TTGTGAAGGCCTTTGTGAAAG	0.473000													48	232					5.13769e-22	7.25211e-22	0.014410	1	0
DGKH	160851	broad.mit.edu	37	13	42780201	42780201	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr13:42780201C>T	ENST00000379274.2	+	21	2541	c.2112C>T	c.(2110-2112)ccC>ccT	p.P704P	DGKH_ENST00000538674.1_Silent_p.P595P|DGKH_ENST00000536612.1_Silent_p.P704P|DGKH_ENST00000540693.1_Silent_p.P840P|DGKH_ENST00000337343.4_Silent_p.P840P|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.4_Silent_p.P840P			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	840					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.P840P(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTCCTCTTCCCAGCTTGCAAG	0.388000													14	50					0	0	0.020292	0	0
ISLR2	57611	broad.mit.edu	37	15	74426491	74426491	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr15:74426491C>G	ENST00000361742.3	+	4	2165	c.1396C>G	c.(1396-1398)Cgg>Ggg	p.R466G	ISLR2_ENST00000435464.1_Missense_Mutation_p.R466G|ISLR2_ENST00000445793.1_Missense_Mutation_p.R466G|ISLR2_ENST00000565159.1_Missense_Mutation_p.R466G|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.R466G|ISLR2_ENST00000419208.1_Missense_Mutation_p.R466G|ISLR2_ENST00000565540.1_Missense_Mutation_p.R466G	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	466					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		p.R466G(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGACCCCTCTCGGTACGTTTC	0.672000													4	13					0	0	0.014758	0	0
SH2D3C	10044	broad.mit.edu	37	9	130536661	130536661	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr9:130536661C>A	ENST00000314830.8	-	2	236	c.123G>T	c.(121-123)agG>agT	p.R41S		NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	41					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.R41S(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AATGGGACTGCCTACTGATGG	0.557000													9	33					0.000274275	0.000308165	0.004482	1	0
C7	730	broad.mit.edu	37	5	40958273	40958273	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr5:40958273A>C	ENST00000313164.9	+	11	1758	c.1399A>C	c.(1399-1401)Act>Cct	p.T467P		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	467	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.T467P(1)					Ovarian(839;0.0112)				TGGTTTGGCTACTGTTGAGGG	0.502000													20	84					0	0	0.014323	0	0
LGALS13	29124	broad.mit.edu	37	19	40095887	40095887	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:40095887C>T	ENST00000221797.4	+	3	207	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	54	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	p.F54F(1)		lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CCTTCCGTTTCCGAGTGCACT	0.502000													15	42					0	0	0.024245	0	0
OR4K15	81127	broad.mit.edu	37	14	20444178	20444178	+	Silent	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr14:20444178G>C	ENST00000305051.5	+	1	576	c.501G>C	c.(499-501)gtG>gtC	p.V167V		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V167V(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATGTGTTGTGCTCGTCCTCA	0.453000													38	117					0	0	0.017118	0	0
LCE2A	353139	broad.mit.edu	37	1	152671410	152671410	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:152671410G>T	ENST00000368779.1	+	2	84	c.33G>T	c.(31-33)caG>caT	p.Q11H		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	11	Cys-rich.				keratinization			p.Q11H(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCAGTGCCAGCCCCCTCCCA	0.547000													13	40					0.00316338	0.00335198	0.024245	1	0
PJA1	64219	broad.mit.edu	37	X	68381955	68381955	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:68381955C>T	ENST00000361478.1	-	2	1504	c.1127G>A	c.(1126-1128)cGt>cAt	p.R376H	PJA1_ENST00000374571.4_Missense_Mutation_p.R321H|PJA1_ENST00000374583.1_Missense_Mutation_p.R376H|PJA1_ENST00000374584.3_Missense_Mutation_p.R188H	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	376							zinc ion binding	p.R376H(1)|p.R188H(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ATATTTCCGACGCAGAGCAGC	0.552000													5	53					0	0	0.021553	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906605	13906605	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:13906605T>A	ENST00000279593.3	-	3	865	c.656A>T	c.(655-657)cAg>cTg	p.Q219L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	219					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.Q219L(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTTCTTGAGCTGATTCTGGAT	0.488000													13	118					0	0	0.016723	0	0
FAM171B	165215	broad.mit.edu	37	2	187626606	187626606	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:187626606A>G	ENST00000304698.5	+	8	1740	c.1537A>G	c.(1537-1539)Agg>Ggg	p.R513G		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	513						integral to membrane	DNA binding	p.R513G(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGATGAAAAGAGGTATCTCAC	0.423000													18	43					0	0	0.033300	0	0
STPG1	90529	broad.mit.edu	37	1	24706266	24706266	+	Silent	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:24706266T>C	ENST00000374409.1	-	5	593	c.339A>G	c.(337-339)gcA>gcG	p.A113A	STPG1_ENST00000003583.8_Silent_p.A66A|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Silent_p.A113A|STPG1_ENST00000440416.1_Silent_p.A66A	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1									p.A113A(1)|p.A66A(1)									GGATAGTGTATGCATTCGCTG	0.413000													21	65					0	0	0.012319	0	0
TMEM214	54867	broad.mit.edu	37	2	27261663	27261663	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:27261663A>C	ENST00000238788.9	+	12	1449	c.1387A>C	c.(1387-1389)Acc>Ccc	p.T463P	TMEM214_ENST00000404032.3_Missense_Mutation_p.T418P	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	463						integral to membrane	protein binding	p.T463P(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGATGTCGTCACCTGTGACAT	0.537000													3	18					0	0	0.021553	0	0
GTPBP3	84705	broad.mit.edu	37	19	17452041	17452041	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:17452041C>T	ENST00000324894.8	+	8	1231	c.1163C>T	c.(1162-1164)cCt>cTt	p.P388L	GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Missense_Mutation_p.P367L|GTPBP3_ENST00000358792.7_Missense_Mutation_p.P420L|GTPBP3_ENST00000361619.5_Missense_Mutation_p.P410L	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	388					tRNA modification	mitochondrion	GTP binding|GTPase activity	p.P420L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GGTCCCGGTCCTGACCTGCCC	0.697000													10	13					0	0	0.006214	0	0
PTH2R	5746	broad.mit.edu	37	2	209358129	209358129	+	Silent	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:209358129G>T	ENST00000272847.2	+	13	1611	c.1398G>T	c.(1396-1398)gcG>gcT	p.A466A	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	466						integral to plasma membrane	parathyroid hormone receptor activity	p.A466A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		CACAGGTGGCGGCCAGCACAC	0.592000													5	12					0.000602214	0.000670843	0.014758	1	0
TSPAN11	441631	broad.mit.edu	37	12	31132538	31132538	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:31132538T>A	ENST00000261177.9	+	5	448	c.389T>A	c.(388-390)cTg>cAg	p.L130Q	TSPAN11_ENST00000535215.1_Missense_Mutation_p.L59Q|TSPAN11_ENST00000544427.1_Missense_Mutation_p.L120Q|TSPAN11_ENST00000546076.1_Missense_Mutation_p.L130Q	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	130						integral to membrane		p.L130Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AACCGGACTCTGGCTGAGAAC	0.627000													7	73					0	0	0.004482	0	0
DNAH7	56171	broad.mit.edu	37	2	196849397	196849397	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:196849397G>C	ENST00000312428.6	-	15	1892	c.1792C>G	c.(1792-1794)Ctt>Gtt	p.L598V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	598	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L598V(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGAGTGCTAAGAGCTTTTTCA	0.303000													12	82					0	0	0.013537	0	0
ASAP2	8853	broad.mit.edu	37	2	9525441	9525441	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:9525441A>T	ENST00000281419.3	+	21	2424	c.2084A>T	c.(2083-2085)cAc>cTc	p.H695L	ASAP2_ENST00000315273.4_Missense_Mutation_p.H695L	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	695					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	p.H695L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CGACTACTCCACGAAGACCTG	0.458000													4	47					0	0	0.009096	0	0
ARSA	410	broad.mit.edu	37	22	51065403	51065403	+	Silent	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr22:51065403G>A	ENST00000547307.1	-	3	942	c.537C>T	c.(535-537)atC>atT	p.I179I	ARSA_ENST00000547805.1_Silent_p.I179I|ARSA_ENST00000453344.2_Silent_p.I95I|ARSA_ENST00000395619.3_Silent_p.I181I|ARSA_ENST00000395621.3_Silent_p.I181I|ARSA_ENST00000356098.5_Silent_p.I181I|ARSA_ENST00000216124.5_Silent_p.I181I			P15289	ARSA_HUMAN	arylsulfatase A	179			I -> S (in MLD; mild).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	p.I179I(1)		endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CCAACAGTGGGATGGGGACCA	0.701000													16	37					0	0	0.024245	0	0
SLC16A2	6567	broad.mit.edu	37	X	73740833	73740833	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:73740833G>T	ENST00000276033.5	+	2	827	c.661G>T	c.(661-663)Gga>Tga	p.G221*	SLC16A2_ENST00000587091.1_Nonsense_Mutation_p.G147*			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	147						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.G221R(1)|p.G221*(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	AGCATGGGTCGGAGCCCTCGC	0.522000													8	80					0.00307968	0.00327216	0.038147	1	0
SP3	6670	broad.mit.edu	37	2	174820362	174820362	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:174820362T>A	ENST00000310015.6	-	4	1408	c.878A>T	c.(877-879)gAc>gTc	p.D293V	SP3_ENST00000418194.2_Missense_Mutation_p.D225V|SP3_ENST00000455789.2_Missense_Mutation_p.D240V	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	293					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	p.D293V(1)	EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CAAATGTCCGTCGGCATTAAT	0.418000													25	146					0	0	0.027356	0	0
C10orf71	118461	broad.mit.edu	37	10	50531291	50531291	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr10:50531291G>T	ENST00000374144.3	+	3	989	c.701G>T	c.(700-702)aGc>aTc	p.S234I	C10orf71_ENST00000323868.4_Missense_Mutation_p.S234I			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	234								p.S234I(2)		endometrium(1)	1						GGCTCCAGCAGCTTCCTCCCA	0.567000													7	7					0.00198382	0.00213684	0.029380	1	0
JAKMIP2	9832	broad.mit.edu	37	5	147027952	147027952	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr5:147027952T>G	ENST00000265272.5	-	5	1390	c.923A>C	c.(922-924)gAa>gCa	p.E308A	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E266A|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E308A	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	308						Golgi apparatus		p.E308A(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCATTTCGTTCATCTCCAAG	0.299000													33	109					0	0	0.012213	0	0
CDH15	1013	broad.mit.edu	37	16	89245841	89245841	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr16:89245841G>T	ENST00000289746.2	+	2	125	c.60G>T	c.(58-60)ttG>ttT	p.L20F	CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	20					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	p.L20F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCCTGTCTTTGGGGGTTCCTG	0.687000													13	54					2.32078e-09	2.95579e-09	0.024245	1	0
FRMD7	90167	broad.mit.edu	37	X	131231335	131231335	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:131231335A>T	ENST00000298542.4	-	4	418	c.243T>A	c.(241-243)ttT>ttA	p.F81L	FRMD7_ENST00000464296.1_Intron	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	81	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	p.F81L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CCACTGGGAAAAATTTCACCA	0.348000													32	266					0	0	0.021022	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881443	33881443	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr5:33881443C>A	ENST00000504830.1	-	2	605	c.270G>T	c.(268-270)tgG>tgT	p.W90C	ADAMTS12_ENST00000515401.1_Missense_Mutation_p.W90C|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.W90C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	90					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.W90C(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTAGTACACCCAGTCCTCTG	0.453000										HNSCC(64;0.19)			38	123					5.59293e-11	7.28945e-11	0.027894	1	0
MIR129-1	406917	broad.mit.edu	37	7	127847991	127847991	+	RNA	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr7:127847991G>T	ENST00000384972.1	+	0	68					NR_029596.1																						ACCCCAAAAAGTATCTGCGGG	0.577000													3	11					2.56e-06	3.05171e-06	0.009096	1	0
EMILIN1	11117	broad.mit.edu	37	2	27305857	27305857	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:27305857G>A	ENST00000380320.4	+	4	1917	c.1418G>A	c.(1417-1419)gGg>gAg	p.G473E		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	473					cell adhesion	collagen		p.G473E(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGTGGCAGGGGCCATGCAG	0.687000													3	12					0	0	0.004672	0	0
COMP	1311	broad.mit.edu	37	19	18893990	18893990	+	Missense_Mutation	SNP	C	C	T	rs71769201		TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:18893990C>T	ENST00000542601.2	-	17	2391	c.2002G>A	c.(2002-2004)Gag>Aag	p.E668K	COMP_ENST00000425807.1_Missense_Mutation_p.E648K|COMP_ENST00000222271.2_Missense_Mutation_p.E701K			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	701	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	p.E701K(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCAGGGCCCTCATAGAATCGC	0.622000													6	25					0	0	0.021553	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891556	2891556	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr18:2891556C>T	ENST00000254528.3	+	4	1590	c.1431C>T	c.(1429-1431)ggC>ggT	p.G477G		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	477					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.G477G(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCCTTCGGGGCGCCATTAATG	0.458000													24	88					0	0	0.024334	0	0
PTPRT	11122	broad.mit.edu	37	20	40944397	40944397	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr20:40944397C>G	ENST00000373198.3	-	12	2340	c.2105G>C	c.(2104-2106)aGc>aCc	p.S702T	PTPRT_ENST00000373184.1_Missense_Mutation_p.S702T|PTPRT_ENST00000373190.1_Missense_Mutation_p.S702T|PTPRT_ENST00000373201.1_Missense_Mutation_p.S702T|PTPRT_ENST00000356100.2_Missense_Mutation_p.S702T|PTPRT_ENST00000373193.3_Missense_Mutation_p.S702T|PTPRT_ENST00000373187.1_Missense_Mutation_p.S702T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	702	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.S702T(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAAGTAGATGCTGTAGCTTTT	0.473000													8	52					0	0	0.038147	0	0
SLC22A16	85413	broad.mit.edu	37	6	110752419	110752419	+	Silent	SNP	C	C	A	rs140728757	byFrequency	TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr6:110752419C>A	ENST00000368919.3	-	7	1542	c.1476G>T	c.(1474-1476)gcG>gcT	p.A492A	SLC22A16_ENST00000330550.4_Silent_p.A458A|SLC22A16_ENST00000439654.1_Silent_p.A492A	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	492					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.A492A(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CAGAGAACGGCGCCAGGATGC	0.572000													9	47					4.68919e-08	5.74756e-08	0.008291	1	0
P2RY10	27334	broad.mit.edu	37	X	78216921	78216921	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:78216921C>A	ENST00000171757.2	+	4	1184	c.904C>A	c.(904-906)Cca>Aca	p.P302T	P2RY10_ENST00000544091.1_Missense_Mutation_p.P302T	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	302						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.P302K(1)|p.P302A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCTTTTGGATCCAATTCTTTA	0.493000													22	183					1.42536e-11	1.87648e-11	0.024334	1	0
WBSCR17	64409	broad.mit.edu	37	7	71134995	71134995	+	Silent	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr7:71134995A>G	ENST00000333538.5	+	8	1939	c.1305A>G	c.(1303-1305)agA>agG	p.R435R	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	435						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R435R(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGAAAGAAGAGCATTAAGGA	0.468000													11	106					0	0	0.010729	0	0
USF2	7392	broad.mit.edu	37	19	35761683	35761683	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:35761683G>T	ENST00000222305.3	+	6	680	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	USF2_ENST00000594064.1_Missense_Mutation_p.A213S|USF2_ENST00000595068.1_Missense_Mutation_p.A215S|USF2_ENST00000379134.3_Missense_Mutation_p.A84S|USF2_ENST00000343550.5_Missense_Mutation_p.A148S	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	215					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.A215S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GAGGACGATCGCCCCCCGGAC	0.592000													10	71					4.36969e-10	5.6018e-10	0.016723	1	0
HIVEP3	59269	broad.mit.edu	37	1	42049869	42049869	+	Silent	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:42049869G>T	ENST00000372584.1	-	3	1614	c.600C>A	c.(598-600)ccC>ccA	p.P200P	HIVEP3_ENST00000372583.1_Silent_p.P200P|HIVEP3_ENST00000429157.2_Silent_p.P200P|HIVEP3_ENST00000247584.5_Silent_p.P200P	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	200	ZAS1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.P200P(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCTTGGCACAGGGCCGGCTGC	0.597000													6	83					3.59834e-05	4.17492e-05	0.021553	1	0
SCG2	7857	broad.mit.edu	37	2	224462659	224462659	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:224462659G>C	ENST00000305409.2	-	2	1574	c.1342C>G	c.(1342-1344)Cag>Gag	p.Q448E		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	448					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.Q448E(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GACGTTTTCTGATTTGCTGCA	0.478000													5	141					0	0	0.021553	0	0
ARAP2	116984	broad.mit.edu	37	4	36134867	36134867	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr4:36134867T>C	ENST00000303965.4	-	20	3897	c.3408A>G	c.(3406-3408)atA>atG	p.I1136M		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1136	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.I1136M(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAACAAATGCTATACAGCTGT	0.378000													4	65					0	0	0.009096	0	0
ITIH2	3698	broad.mit.edu	37	10	7751045	7751045	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr10:7751045A>G	ENST00000358415.4	+	4	419	c.253A>G	c.(253-255)Atg>Gtg	p.M85V	ITIH2_ENST00000379587.4_Missense_Mutation_p.M74V|ITIH2_ENST00000480387.1_Intron	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	85	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.M85V(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TACTTCTCGGATGGCCACCAC	0.418000													30	130					0	0	0.045705	0	0
GRIK5	2901	broad.mit.edu	37	19	42557843	42557843	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:42557843T>A	ENST00000262895.3	-	10	1179	c.1180A>T	c.(1180-1182)Aac>Tac	p.N394Y	GRIK5_ENST00000593562.1_Missense_Mutation_p.N394Y|GRIK5_ENST00000301218.4_Missense_Mutation_p.N394Y	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	394						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.N394Y(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	AGGGTGCGGTTAGAGTACCAC	0.637000													10	52					0	0	0.010729	0	0
ZNF600	162966	broad.mit.edu	37	19	53269696	53269696	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:53269696C>A	ENST00000338230.3	-	3	1580	c.1313G>T	c.(1312-1314)gGa>gTa	p.G438V		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G438V(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AGGTTGCTCTCCAGTATGAAT	0.358000													22	120					0.000175454	0.000201181	0.010504	1	0
CNTN1	1272	broad.mit.edu	37	12	41327314	41327314	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:41327314A>G	ENST00000551295.2	+	8	872	c.755A>G	c.(754-756)tAt>tGt	p.Y252C	CNTN1_ENST00000360099.3_Missense_Mutation_p.Y252C|CNTN1_ENST00000348761.2_Missense_Mutation_p.Y241C|CNTN1_ENST00000547702.1_Missense_Mutation_p.Y252C|CNTN1_ENST00000547849.1_Missense_Mutation_p.Y252C|CNTN1_ENST00000347616.1_Missense_Mutation_p.Y252C	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	252	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.Y252F(1)|p.Y252C(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAGGATGTATATGCATTGATG	0.303000													27	129					0	0	0.012213	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923137	43923137	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr17:43923137G>T	ENST00000329196.5	+	1	882	c.865G>T	c.(865-867)Gct>Tct	p.A289S	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	289						integral to membrane	aspartic-type endopeptidase activity	p.A289S(1)									TGGCCTGGGTGCTGGCATTGG	0.607000													21	91					1.22574e-08	1.54104e-08	0.014323	1	0
ITPR3	3710	broad.mit.edu	37	6	33627307	33627307	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr6:33627307T>A	ENST00000374316.5	+	8	1752	c.692T>A	c.(691-693)cTg>cAg	p.L231Q	ITPR3_ENST00000605930.1_Missense_Mutation_p.L231Q			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	231					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	p.L231Q(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CGGGACCACCTGGAGGAGGTG	0.607000													17	41					0	0	0.038395	0	0
FLNA	2316	broad.mit.edu	37	X	153588197	153588197	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:153588197C>A	ENST00000422373.1	-	23	4130	c.3882G>T	c.(3880-3882)aaG>aaT	p.K1294N	FLNA_ENST00000344736.4_Missense_Mutation_p.K1294N|FLNA_ENST00000369850.3_Missense_Mutation_p.K1294N|FLNA_ENST00000360319.4_Missense_Mutation_p.K1294N	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1294					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.K1294N(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCACACGGGCCTTGACGTGCG	0.622000													7	62					0.00198382	0.00213684	0.029380	1	0
TSC2	7249	broad.mit.edu	37	16	2104434	2104434	+	Silent	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr16:2104434A>G	ENST00000219476.3	+	5	1104	c.474A>G	c.(472-474)gaA>gaG	p.E158E	TSC2_ENST00000439673.2_Silent_p.E121E|TSC2_ENST00000568454.1_Silent_p.E169E|TSC2_ENST00000382538.6_Silent_p.E109E|TSC2_ENST00000353929.4_Silent_p.E158E|TSC2_ENST00000350773.4_Silent_p.E158E|TSC2_ENST00000401874.2_Silent_p.E158E	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	158	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	p.E158E(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ACTTGGAGGAAGAGCTGGGTG	0.557000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				9	61					0	0	0.006214	0	0
INSIG2	51141	broad.mit.edu	37	2	118860815	118860815	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:118860815G>C	ENST00000245787.4	+	3	493	c.287G>C	c.(286-288)gGa>gCa	p.G96A	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	96					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		p.G96S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AGACATCTAGGAGAACCACAT	0.383000													28	148					0	0	0.034045	0	0
DLC1	10395	broad.mit.edu	37	8	13357118	13357118	+	Missense_Mutation	SNP	G	G	T	rs150963046		TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr8:13357118G>T	ENST00000276297.4	-	2	872	c.463C>A	c.(463-465)Caa>Aaa	p.Q155K	DLC1_ENST00000316609.5_Missense_Mutation_p.Q155K|DLC1_ENST00000511869.1_Missense_Mutation_p.Q155K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	155					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.Q155K(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGGTTACTTTGTATGATGGGC	0.413000													12	227					0.000219431	0.00025087	0.020292	1	0
UNCX	340260	broad.mit.edu	37	7	1273285	1273285	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr7:1273285G>T	ENST00000316333.8	+	2	515	c.404G>T	c.(403-405)cGc>cTc	p.R135L		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	135					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R135L(1)		lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GTGTTCATGCGCGAGGCGCTG	0.677000													6	20					3.59834e-05	4.17492e-05	0.021553	1	0
ASTN2	23245	broad.mit.edu	37	9	119382627	119382627	+	Silent	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr9:119382627G>A	ENST00000313400.4	-	18	3268	c.3168C>T	c.(3166-3168)gcC>gcT	p.A1056A	ASTN2_ENST00000358637.4_Silent_p.A108A|ASTN2_ENST00000373996.3_Silent_p.A1052A|ASTN2_ENST00000341734.4_Silent_p.A108A|ASTN2_ENST00000288520.5_Silent_p.A157A|ASTN2_ENST00000361477.3_Silent_p.A108A|ASTN2_ENST00000361209.2_Silent_p.A1005A			O75129	ASTN2_HUMAN	astrotactin 2	1056						integral to membrane		p.A108A(1)|p.A1005A(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGAGCCCATTGGCATCAAAGG	0.562000													23	79					0	0	0.018920	0	0
ANKZF1	55139	broad.mit.edu	37	2	220098947	220098947	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:220098947A>G	ENST00000323348.5	+	9	1315	c.1141A>G	c.(1141-1143)Ata>Gta	p.I381V	ANKZF1_ENST00000409849.1_Missense_Mutation_p.I171V|ANKZF1_ENST00000410034.3_Missense_Mutation_p.I381V	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	381						intracellular	zinc ion binding	p.I381V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGGAAGAAATAAGAAAGAT	0.468000													7	64					0	0	0.029380	0	0
GNG11	2791	broad.mit.edu	37	7	93555449	93555449	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr7:93555449C>A	ENST00000248564.4	+	2	582	c.143C>A	c.(142-144)tCt>tAt	p.S48Y		NM_004126.3	NP_004117.1	P61952	GBG11_HUMAN	guanine nucleotide binding protein (G protein), gamma 11	48					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	p.S48Y(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(2)|skin(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GAAGAACGTTCTGGAGAGGAT	0.333000													14	92					1.3612e-06	1.63763e-06	0.024245	1	0
UGT2B10	7365	broad.mit.edu	37	4	69692148	69692148	+	Silent	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr4:69692148G>T	ENST00000265403.7	+	4	1047	c.1020G>T	c.(1018-1020)ggG>ggT	p.G340G	UGT2B10_ENST00000458688.2_Silent_p.G256G	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	340					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G340G(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GATTTGATGGGAATAAACCAG	0.363000													22	83					2.89027e-11	3.77958e-11	0.014323	1	0
DGKG	1608	broad.mit.edu	37	3	185970902	185970902	+	Missense_Mutation	SNP	C	C	T	rs148285460		TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:185970902C>T	ENST00000265022.3	-	18	2119	c.1580G>A	c.(1579-1581)cGt>cAt	p.R527H	DGKG_ENST00000544847.1_Missense_Mutation_p.R468H|DGKG_ENST00000344484.4_Missense_Mutation_p.R502H|DGKG_ENST00000382164.4_Missense_Mutation_p.R488H	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	527	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.R527H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCGGAGACAACGGGCAAGGTC	0.517000													23	62					0	0	0.030593	0	0
SEMA5A	9037	broad.mit.edu	37	5	9226985	9226985	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr5:9226985C>A	ENST00000382496.5	-	7	1093	c.428G>T	c.(427-429)cGc>cTc	p.R143L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	143	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.R143L(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCATACCGAGCGGTTGGTGCA	0.443000													15	33					7.93312e-07	9.57361e-07	0.020292	1	0
DOPEY2	9980	broad.mit.edu	37	21	37584329	37584329	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr21:37584329G>T	ENST00000399151.3	+	7	923	c.838G>T	c.(838-840)Gcc>Tcc	p.A280S	DOPEY2_ENST00000492760.1_3'UTR	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	280					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		p.A280S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CATTCTCTCAGCCGCCACCCA	0.478000													15	72					3.27435e-08	4.03871e-08	0.020292	1	0
NRK	203447	broad.mit.edu	37	X	105181473	105181473	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:105181473T>A	ENST00000428173.2	+	22	4004	c.3701T>A	c.(3700-3702)aTg>aAg	p.M1234K	NRK_ENST00000243300.9_Missense_Mutation_p.M1233K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1233	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.M1233K(1)|p.M1234K(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTATATCTGATGGACAGAAGT	0.368000										HNSCC(51;0.14)			3	24					0	0	0.004672	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135825773	135825773	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:135825773C>A	ENST00000250617.6	-	5	1837	c.632G>T	c.(631-633)aGt>aTt	p.S211I	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.S57I|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.S57I|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.S57I	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	211	SH3.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.S211I(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GACATAATTACTGGGGAACCA	0.403000													23	139					2.98393e-07	3.64599e-07	0.016522	1	0
TRPM6	140803	broad.mit.edu	37	9	77436693	77436693	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr9:77436693A>G	ENST00000451710.3	-	8	1139	c.902T>C	c.(901-903)cTg>cCg	p.L301P	TRPM6_ENST00000376872.3_Missense_Mutation_p.L301P|TRPM6_ENST00000361255.3_Missense_Mutation_p.L296P|TRPM6_ENST00000360774.1_Missense_Mutation_p.L301P|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Missense_Mutation_p.L296P|TRPM6_ENST00000376864.4_Missense_Mutation_p.L301P|TRPM6_ENST00000376871.3_Missense_Mutation_p.L301P			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	301					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.L301P(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCACACTGACAGGATGACGTT	0.577000													13	37					0	0	0.020292	0	0
LINC00264	645528	broad.mit.edu	37	10	26880338	26880338	+	RNA	SNP	G	G	C	rs3118888	by1000genomes	TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr10:26880338G>C	ENST00000412114.1	+	0	573					NR_026793.1																						GCTGAAACATGGAAGGTAAAA	0.483000													3	31					0	0	0.009096	0	0
GLDC	2731	broad.mit.edu	37	9	6605137	6605137	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr9:6605137C>T	ENST00000321612.6	-	6	1005	c.855G>A	c.(853-855)caG>caA	p.Q285Q		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	285					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	p.Q285Q(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTACCCCACTCTGATGAGCTC	0.498000													5	36					0	0	0.021553	0	0
GSTCD	79807	broad.mit.edu	37	4	106744216	106744216	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr4:106744216G>T	ENST00000515279.1	+	6	1566	c.1346G>T	c.(1345-1347)tGc>tTc	p.C449F	GSTCD_ENST00000360505.5_Missense_Mutation_p.C449F|GSTCD_ENST00000515255.1_3'UTR|RP11-45L9.1_ENST00000506527.1_RNA|RP11-45L9.1_ENST00000504955.1_RNA|RP11-45L9.1_ENST00000509003.1_RNA|GSTCD_ENST00000394730.3_Missense_Mutation_p.C362F|GSTCD_ENST00000394728.3_Missense_Mutation_p.C449F			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	449						cytoplasm	rRNA methyltransferase activity	p.C362F(1)|p.C449F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GTGGATTTCTGCAGCGGTGGG	0.388000													17	82					4.75885e-15	6.4608e-15	0.033300	1	0
FOXI1	2299	broad.mit.edu	37	5	169533524	169533524	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr5:169533524A>T	ENST00000449804.2	+	1	608	c.563A>T	c.(562-564)gAg>gTg	p.E188V	FOXI1_ENST00000306268.6_Missense_Mutation_p.E188V	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	188					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.E188V(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCGCGACGAGGACGACCCG	0.577000									Pendred syndrome				7	22					0	0	0.029380	0	0
ZFP1	162239	broad.mit.edu	37	16	75204195	75204195	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr16:75204195G>C	ENST00000393430.2	+	4	1311	c.1187G>C	c.(1186-1188)aGt>aCt	p.S396T	ZFP1_ENST00000332307.4_Missense_Mutation_p.S363T|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000570010.1_Missense_Mutation_p.S396T|ZFP1_ENST00000568079.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S396T(1)		endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						TCCCGACTCAGTGTCCATCAG	0.493000													13	29					0	0	0.020292	0	0
SEMA5A	9037	broad.mit.edu	37	5	9066617	9066617	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr5:9066617C>A	ENST00000382496.5	-	17	2880	c.2215G>T	c.(2215-2217)Gat>Tat	p.D739Y		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	739	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.D739Y(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AAATTCGGATCAGCCAGGCGG	0.552000													74	145					4.66136e-34	6.67617e-34	0.014410	1	0
ZNF713	349075	broad.mit.edu	37	7	56007632	56007632	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr7:56007632G>T	ENST00000429591.2	+	4	1264	c.1226G>T	c.(1225-1227)cGg>cTg	p.R409L	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R409L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCCATACTCGGGAGAAATTA	0.383000													17	62					0.000566183	0.00063432	0.033300	1	0
SYTL3	94120	broad.mit.edu	37	6	159178390	159178390	+	Missense_Mutation	SNP	C	C	A	rs139194153	byFrequency	TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr6:159178390C>A	ENST00000297239.9	+	13	1479	c.1285C>A	c.(1285-1287)Cgc>Agc	p.R429S	SYTL3_ENST00000367081.3_Missense_Mutation_p.R155S|SYTL3_ENST00000360448.3_Missense_Mutation_p.R361S			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	429					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	p.R361S(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		ACAGTCCTTCCGCTGGCATCC	0.542000													10	45					1.49906e-05	1.76546e-05	0.020292	1	0
MRPS9	64965	broad.mit.edu	37	2	105716185	105716185	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:105716185G>T	ENST00000258455.3	+	11	1267	c.1157G>T	c.(1156-1158)gGa>gTa	p.G386V	AC104655.2_ENST00000449177.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	386					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	p.G386V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGCCAAGAGGGAGCCCGCAGA	0.483000													3	33					0.00024832	0.000282247	0.009096	1	0
GREB1	9687	broad.mit.edu	37	2	11772056	11772056	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:11772056C>T	ENST00000381486.2	+	27	4933	c.4633C>T	c.(4633-4635)Ccg>Tcg	p.P1545S	GREB1_ENST00000396123.1_Missense_Mutation_p.P543S|GREB1_ENST00000234142.5_Missense_Mutation_p.P1545S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1545						integral to membrane		p.P1545S(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TATAAAAAGTCCGACATTCAC	0.463000													5	52					0	0	0.014758	0	0
KCNJ11	3767	broad.mit.edu	37	11	17408921	17408921	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr11:17408921T>C	ENST00000339994.4	-	1	1285	c.718A>G	c.(718-720)Atg>Gtg	p.M240V	KCNJ11_ENST00000528731.1_Missense_Mutation_p.M153V	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	153						integral to membrane	ATP-activated inward rectifier potassium channel activity	p.M240V(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		CCGTTCTCCATGGGGATGTCC	0.612000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	42					0	0	0.008291	0	0
TAT	6898	broad.mit.edu	37	16	71610280	71610280	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr16:71610280G>T	ENST00000355962.4	-	2	172	c.39C>A	c.(37-39)aaC>aaA	p.N13K	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	13					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.N13K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TTGAGGGGAGGTTGCCTTTGC	0.537000													9	47					2.17888e-05	2.55072e-05	0.006214	1	0
GPRC6A	222545	broad.mit.edu	37	6	117128020	117128020	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr6:117128020A>G	ENST00000310357.3	-	3	869	c.848T>C	c.(847-849)gTt>gCt	p.V283A	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Missense_Mutation_p.V283A	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	283					response to amino acid stimulus		G-protein coupled receptor activity	p.V283A(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GAGATCAAAAACATGGAATTG	0.348000													12	82					0	0	0.013537	0	0
RBM48	84060	broad.mit.edu	37	7	92158152	92158152	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr7:92158152G>T	ENST00000481551.1	+	1	66	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	RBM48_ENST00000265732.5_Missense_Mutation_p.G9W			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	9							nucleotide binding	p.G9W(1)									CGGGGAGCTAGGGAGTTTATT	0.552000													5	21					0.014758	0.0154288	0.014758	1	0
SEMA4B	10509	broad.mit.edu	37	15	90771740	90771740	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr15:90771740C>T	ENST00000411539.2	+	14	2639	c.2379C>T	c.(2377-2379)agC>agT	p.S793S	SEMA4B_ENST00000332496.6_Silent_p.S793S|SEMA4B_ENST00000379122.3_Intron	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B									p.S793S(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGTCAGACAGCCCCCCGGGGT	0.677000													3	14					0	0	0.004672	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95206110	95206110	+	Splice_Site	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr4:95206110G>C	ENST00000354268.4	+	23	2982		c.e23-1		SMARCAD1_ENST00000457823.2_Splice_Site|SMARCAD1_ENST00000509418.1_Splice_Site			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1						chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.?(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTTTTTTTTAGAGAAGTACTA	0.259000													20	47					0	0	0.008871	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157780	26157780	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:26157780G>C	ENST00000325250.1	+	2	865	c.678G>C	c.(676-678)atG>atC	p.M226I		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	226	MAGE.						protein binding	p.M226I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TGAATATGATGGGTGTATATG	0.488000													4	14					0	0	0.009096	0	0
KANSL3	55683	broad.mit.edu	37	2	97297100	97297100	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:97297100G>C	ENST00000599854.1	-	3	541	c.74C>G	c.(73-75)aCt>aGt	p.T25S	KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Missense_Mutation_p.T25S|KANSL3_ENST00000440133.1_5'UTR|KANSL3_ENST00000431828.1_Missense_Mutation_p.T112S|KANSL3_ENST00000435669.1_Missense_Mutation_p.T25S	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	112								p.T112S(1)									ATCTGCATCAGTCCTGGCAAA	0.512000													3	17					0	0	0.004672	0	0
SLC35F3	148641	broad.mit.edu	37	1	234444964	234444964	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:234444964G>C	ENST00000366618.3	+	4	871	c.726G>C	c.(724-726)aaG>aaC	p.K242N	SLC35F3_ENST00000366617.3_Missense_Mutation_p.K173N	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	173					transport	integral to membrane		p.K242N(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			ATGCAATAAAGAAAATAAACA	0.428000													4	102					0	0	0.009096	0	0
KATNAL1	84056	broad.mit.edu	37	13	30814603	30814603	+	Silent	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr13:30814603T>C	ENST00000380615.3	-	6	887	c.720A>G	c.(718-720)ccA>ccG	p.P240P	KATNAL1_ENST00000380617.3_Silent_p.P240P	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	240						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.P240P(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TCACCTTCCATGGCCTTCTAA	0.393000													30	65					0	0	0.045705	0	0
CIB4	130106	broad.mit.edu	37	2	26864168	26864168	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:26864168C>T	ENST00000288861.4	-	1	68	c.15G>A	c.(13-15)ttG>ttA	p.L5L		NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	5							calcium ion binding	p.L5L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGATACCTCAAGCATTGCC	0.567000													29	169					0	0	0.045705	0	0
PTBP1	5725	broad.mit.edu	37	19	804558	804558	+	Silent	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:804558G>T	ENST00000356948.6	+	6	885	c.462G>T	c.(460-462)gtG>gtT	p.V154V	PTBP1_ENST00000394601.4_Silent_p.V154V|PTBP1_ENST00000349038.4_Silent_p.V154V|PTBP1_ENST00000350092.4_Intron	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	154					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	p.V154V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCAGGCGGTGAACTCGGTCC	0.756000													6	29					0.00198382	0.00213684	0.029380	1	0
PRDM9	56979	broad.mit.edu	37	5	23526879	23526879	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr5:23526879T>A	ENST00000296682.3	+	11	1864	c.1682T>A	c.(1681-1683)tTt>tAt	p.F561Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	561					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.F561Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGCGGGGCTTTAGCTGGAAG	0.532000										HNSCC(3;0.000094)			11	82					0	0	0.013537	0	0
PM20D1	148811	broad.mit.edu	37	1	205814509	205814509	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:205814509C>T	ENST00000367136.4	-	3	477	c.433G>A	c.(433-435)Gag>Aag	p.E145K	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	145						extracellular region	metal ion binding|peptidase activity	p.E145K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CCATCACGCTCCAACCCAGAG	0.577000													14	74					0	0	0.024245	0	0
STON1	11037	broad.mit.edu	37	2	48822396	48822396	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:48822396C>T	ENST00000309835.3	+	3	2173	c.2163C>T	c.(2161-2163)atC>atT	p.I721I	STON1_ENST00000406226.1_Silent_p.I721I|STON1-GTF2A1L_ENST00000309827.2_Intron|STON1-GTF2A1L_ENST00000405008.1_Intron|STON1_ENST00000404752.1_Silent_p.I721I|STON1-GTF2A1L_ENST00000394754.1_Intron|STON1-GTF2A1L_ENST00000394751.3_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron					stonin 1									p.I721I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGATTAAAATCGATGGAGAAG	0.388000													5	53					0	0	0.029380	0	0
TSKS	60385	broad.mit.edu	37	19	50251357	50251357	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:50251357G>T	ENST00000246801.3	-	4	646	c.564C>A	c.(562-564)taC>taA	p.Y188*		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	188							protein binding	p.Y188*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTTGAATGCAGTACCCCTCCA	0.572000													22	109					1.1804e-14	1.59701e-14	0.021523	1	0
ZNF99	7652	broad.mit.edu	37	19	22940005	22940005	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:22940005A>G	ENST00000397104.3	-	6	2325	c.2326T>C	c.(2326-2328)Tgt>Cgt	p.C776R						zinc finger protein 99									p.C776R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATTCTTCACATTTGTATGGT	0.378000													22	50					0	0	0.010504	0	0
PNPLA7	375775	broad.mit.edu	37	9	140354901	140354901	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr9:140354901G>A	ENST00000406427.1	-	35	4309	c.3973C>T	c.(3973-3975)Cac>Tac	p.H1325Y	PNPLA7_ENST00000277531.4_Missense_Mutation_p.H1300Y|PNPLA7_ENST00000371457.1_Missense_Mutation_p.H906Y|PNPLA7_ENST00000492278.1_5'UTR	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1300					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.H1300Y(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGACTGGGGTGTCGATGCCGC	0.632000													3	15					0	0	0.009096	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96557601	96557601	+	Silent	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:96557601A>G	ENST00000456556.1	-	45	2847	c.2763T>C	c.(2761-2763)tcT>tcC	p.S921S	ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000420871.2_Silent_p.S172S|ANKRD36C_ENST00000295246.5_Silent_p.S342S					ankyrin repeat domain 36C									p.S172S(2)|p.S921S(1)|p.S342S(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						ATGGTTTCTCAGAAGACACTG	0.308000													2	4					0	0	0.004672	0	0
ZNF383	163087	broad.mit.edu	37	19	37734241	37734241	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:37734241G>T	ENST00000589413.1	+	8	1686	c.1103G>T	c.(1102-1104)tGt>tTt	p.C368F	ZNF383_ENST00000590503.1_Missense_Mutation_p.C368F|ZNF383_ENST00000352998.3_Missense_Mutation_p.C368F			Q8NA42	ZN383_HUMAN	zinc finger protein 383	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.C368F(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCTATGATTGTAAGGAATGT	0.438000													12	69					1.5842e-08	1.97268e-08	0.016723	1	0
AKT3	10000	broad.mit.edu	37	1	243828134	243828134	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:243828134C>A	ENST00000366539.1	-	4	424	c.224G>T	c.(223-225)aGa>aTa	p.R75I	AKT3_ENST00000263826.5_Missense_Mutation_p.R75I|AKT3_ENST00000336199.5_Missense_Mutation_p.R75I|AKT3_ENST00000366540.1_Missense_Mutation_p.R75I			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	75	PH.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.R75I(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CTGGAGACATCTGATTATAAA	0.299000													29	105					6.05902e-23	8.58361e-23	0.017118	1	0
TRMT1	55621	broad.mit.edu	37	19	13220612	13220612	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:13220612C>T	ENST00000592062.1	-	11	1717	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	TRMT1_ENST00000437766.1_Missense_Mutation_p.E383K|TRMT1_ENST00000357720.4_Missense_Mutation_p.E383K|TRMT1_ENST00000221504.8_Missense_Mutation_p.E354K			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	383							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	p.E383K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TGTTCACACTCGGGGGTCACA	0.607000													10	33					0	0	0.010729	0	0
PIP	5304	broad.mit.edu	37	7	142836239	142836239	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr7:142836239T>G	ENST00000291009.3	+	3	313	c.273T>G	c.(271-273)tgT>tgG	p.C91W		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	91						extracellular region	actin binding	p.C91W(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CCTGCCTATGTGACGACAATC	0.463000													4	120					0	0	0.029380	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26423299	26423299	+	RNA	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr6:26423299C>T	ENST00000466808.2	+	0	218																		p.A73V(1)									TTCTCCCCTGCAGTGTTTGTG	0.542000													9	44					0	0	0.006214	0	0
SRPRB	58477	broad.mit.edu	37	3	133525472	133525472	+	Silent	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:133525472G>T	ENST00000466490.2	+	3	459	c.174G>T	c.(172-174)cgG>cgT	p.R58R		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	58						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	p.R58R(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AGTTAATCCGGAGCAGAAGGA	0.453000													7	82					0.00198382	0.00213684	0.029380	1	0
TLR10	81793	broad.mit.edu	37	4	38776689	38776689	+	Silent	SNP	T	T	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr4:38776689T>G	ENST00000308973.4	-	4	1128	c.523A>C	c.(523-525)Aga>Cga	p.R175R	TLR10_ENST00000506111.1_Silent_p.R175R|TLR10_ENST00000361424.2_Silent_p.R175R|TLR10_ENST00000508334.1_Silent_p.R175R	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	175					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	p.R175R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GGAAGAGTTCTGAATCCTAAG	0.388000													18	120					0	0	0.038395	0	0
CAD	790	broad.mit.edu	37	2	27461359	27461359	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:27461359C>T	ENST00000264705.4	+	31	5083	c.4921C>T	c.(4921-4923)Cac>Tac	p.H1641Y	CAD_ENST00000403525.1_Missense_Mutation_p.H1578Y	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1641	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.H1641Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGTGGCTCCCCACCACCTGTT	0.617000													30	108					0	0	0.019004	0	0
APBB3	10307	broad.mit.edu	37	5	139943182	139943182	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr5:139943182C>G	ENST00000357560.4	-	3	730	c.287G>C	c.(286-288)cGg>cCg	p.R96P	APBB3_ENST00000358580.5_Missense_Mutation_p.R96P|APBB3_ENST00000354402.5_Missense_Mutation_p.R96P|APBB3_ENST00000508496.2_Intron|APBB3_ENST00000511201.2_Missense_Mutation_p.R96P|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000412920.3_Missense_Mutation_p.R96P|APBB3_ENST00000356738.2_Missense_Mutation_p.R96P	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	96						actin cytoskeleton|cytoplasm		p.R96P(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTTACCTCCGGTCCAGTGA	0.562000													13	25					0	0	0.016723	0	0
ARSJ	79642	broad.mit.edu	37	4	114824400	114824400	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr4:114824400C>T	ENST00000315366.7	-	2	1696	c.830G>A	c.(829-831)aGg>aAg	p.R277K	ARSJ_ENST00000541197.1_Missense_Mutation_p.R277K	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	277						extracellular region	arylsulfatase activity|metal ion binding	p.R277K(1)|p.R277M(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TTCGAAATACCTGCCAGGAGC	0.423000													30	95					0	0	0.034045	0	0
SLC26A4	5172	broad.mit.edu	37	7	107350585	107350585	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr7:107350585A>G	ENST00000265715.3	+	19	2400	c.2176A>G	c.(2176-2178)Ata>Gta	p.I726V	SLC26A4_ENST00000541474.1_Missense_Mutation_p.I287V|SLC26A4_ENST00000543100.1_Missense_Mutation_p.I295V|SLC26A4_ENST00000544569.1_Missense_Mutation_p.I313V	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	726	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.I726V(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CCATGATGCTATACTCTATCT	0.363000									Pendred syndrome				12	70					0	0	0.010729	0	0
ZNF420	147923	broad.mit.edu	37	19	37619576	37619576	+	Silent	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:37619576T>C	ENST00000337995.3	+	5	1898	c.1683T>C	c.(1681-1683)tgT>tgC	p.C561C	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000586540.1_3'UTR|ZNF420_ENST00000304239.7_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C561C(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATATCAATGTAAGGAATGTG	0.423000													4	86					0	0	0.009096	0	0
DPPA4	55211	broad.mit.edu	37	3	109052752	109052752	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:109052752C>T	ENST00000335658.6	-	2	197	c.143G>A	c.(142-144)aGa>aAa	p.R48K	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	48						nucleus	protein binding	p.R48K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTCTTTGGTTCTCTTTGCTGA	0.438000													4	109					0	0	0.009096	0	0
SLC35F5	80255	broad.mit.edu	37	2	114500365	114500365	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:114500365C>G	ENST00000245680.2	-	7	1067	c.654G>C	c.(652-654)atG>atC	p.M218I	SLC35F5_ENST00000409342.1_Missense_Mutation_p.M212I	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	218					transport	integral to membrane		p.M218I(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CAGGATATGACATGCGAGACA	0.408000													19	129					0	0	0.010504	0	0
TENM1	10178	broad.mit.edu	37	X	123637470	123637470	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:123637470C>G	ENST00000422452.2	-	19	3448	c.3385G>C	c.(3385-3387)Gat>Cat	p.D1129H	TENM1_ENST00000371130.3_Missense_Mutation_p.D1129H	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.D1131H(1)									TTAGAAGCATCCATCTCAAAA	0.373000													113	271					0	0	0.014410	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093059	143093059	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr6:143093059C>G	ENST00000367603.2	-	5	3559	c.2817G>C	c.(2815-2817)aaG>aaC	p.K939N	HIVEP2_ENST00000012134.2_Missense_Mutation_p.K939N|HIVEP2_ENST00000367604.1_Missense_Mutation_p.K939N	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	939					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K939N(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCAGACGCTTCTTTTTGGGTG	0.572000													8	63					0	0	0.038147	0	0
USH2A	7399	broad.mit.edu	37	1	216017807	216017807	+	Silent	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:216017807G>A	ENST00000366943.2	-	46	9473	c.9087C>T	c.(9085-9087)gtC>gtT	p.V3029V	USH2A_ENST00000307340.3_Silent_p.V3029V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3029	Fibronectin type-III 17.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.V3029V(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTTGATGATGACAACCTCTG	0.403000										HNSCC(13;0.011)			5	72					0	0	0.014758	0	0
MCM4	4173	broad.mit.edu	37	8	48880031	48880031	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr8:48880031G>A	ENST00000262105.2	+	9	1369	c.1160G>A	c.(1159-1161)aGa>aAa	p.R387K	MCM4_ENST00000523944.1_Missense_Mutation_p.R387K	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	387					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.R387K(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CCTGGGGACAGAGTGAATGTT	0.498000													29	97					0	0	0.012213	0	0
GABRR1	2569	broad.mit.edu	37	6	89909084	89909084	+	Silent	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr6:89909084G>A	ENST00000435811.1	-	3	748	c.294C>T	c.(292-294)gaC>gaT	p.D98D	GABRR1_ENST00000454853.2_Silent_p.D115D|GABRR1_ENST00000369451.3_Silent_p.D28D	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	115					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.D109D(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	CACTTACCATGTCAACCTCTG	0.547000													4	21					0	0	0.014758	0	0
AFG3L2	10939	broad.mit.edu	37	18	12359959	12359959	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr18:12359959C>T	ENST00000269143.3	-	7	950	c.719G>A	c.(718-720)cGg>cAg	p.R240Q		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	240					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.R240Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AACAGGCACCCGATTTTCTCC	0.408000													9	121					0	0	0.004482	0	0
PSG8	440533	broad.mit.edu	37	19	43268091	43268091	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:43268091C>G	ENST00000404209.4	-	2	503	c.407G>C	c.(406-408)gGa>gCa	p.G136A	PSG8_ENST00000306511.4_Missense_Mutation_p.G136A|PSG8_ENST00000401467.2_Missense_Mutation_p.G136A|PSG8_ENST00000406636.3_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	136	Ig-like V-type.					extracellular region		p.G136A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGTGAAATGTCCAGTTACTCC	0.493000													30	339					0	0	0.015359	0	0
ANKH	56172	broad.mit.edu	37	5	14769115	14769115	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr5:14769115C>T	ENST00000284268.6	-	2	612	c.282G>A	c.(280-282)ggG>ggA	p.G94G		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	94					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.G94G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAGCGATGGCCCCTGCCACCA	0.502000													52	47					0	0	0.014410	0	0
ZNF618	114991	broad.mit.edu	37	9	116812104	116812104	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr9:116812104C>G	ENST00000288466.7	+	14	2342	c.2243C>G	c.(2242-2244)gCc>gGc	p.A748G	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.A841G	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	841					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A841G(1)|p.A748G(1)|p.A758G(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GAGTCCTGGGCCGAGGAGGCC	0.622000													22	38					0	0	0.016522	0	0
EMILIN2	84034	broad.mit.edu	37	18	2892120	2892120	+	Silent	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr18:2892120T>C	ENST00000254528.3	+	4	2154	c.1995T>C	c.(1993-1995)caT>caC	p.H665H		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	665					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.H665H(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCGTGGCTCATTGCTGCAGTC	0.602000													24	60					0	0	0.021523	0	0
ITGAD	3681	broad.mit.edu	37	16	31414913	31414913	+	Silent	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr16:31414913C>A	ENST00000389202.2	+	7	700	c.651C>A	c.(649-651)ccC>ccA	p.P217P	RP11-120K18.2_ENST00000567545.1_RNA	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	217	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.P217P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGGTGGATCCCATCGTCCAAC	0.587000													7	58					0.00198382	0.00213684	0.029380	1	0
PIK3CA	5290	broad.mit.edu	37	3	178916946	178916946	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:178916946G>C	ENST00000263967.3	+	2	490	c.333G>C	c.(331-333)aaG>aaC	p.K111N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K111N(12)|p.K111_L113delKIL(2)|p.K111_I112>N(1)|p.K111del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GTGAAGAAAAGATCCTCAATC	0.328000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			37	119					0	0	0.025465	0	0
OR4X1	390113	broad.mit.edu	37	11	48285642	48285642	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr11:48285642C>A	ENST00000320048.1	+	1	230	c.230C>A	c.(229-231)cCc>cAc	p.P77H		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P77H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GTCATGGCCCCCAAGCTTATC	0.488000													15	51					4.14922e-12	5.51818e-12	0.028581	1	0
CNOT10	25904	broad.mit.edu	37	3	32805965	32805965	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:32805965A>G	ENST00000328834.5	+	16	2175	c.1859A>G	c.(1858-1860)aAt>aGt	p.N620S	CNOT10_ENST00000454516.2_Missense_Mutation_p.N680S|CNOT10_ENST00000331889.6_Missense_Mutation_p.N593S	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	620					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	p.N620S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AAAGGTGAAAATGAAGCAATG	0.378000													10	123					0	0	0.008291	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711422	155711422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:155711422C>A	ENST00000295101.2	+	3	1580	c.1103C>A	c.(1102-1104)tCg>tAg	p.S368*	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	368					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.S368*(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTTCTCATGTCGTCCCCTTTA	0.413000													21	124					2.39187e-15	3.25861e-15	0.008871	1	0
PREX2	80243	broad.mit.edu	37	8	68972959	68972959	+	Silent	SNP	T	T	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr8:68972959T>G	ENST00000288368.4	+	11	1561	c.1284T>G	c.(1282-1284)ccT>ccG	p.P428P	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	428	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.P428P(4)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTCACAGGCCTGAGGAAGGCG	0.378000													14	102					0	0	0.033300	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708349	126708349	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:126708349G>T	ENST00000393409.2	+	1	913	c.913G>T	c.(913-915)Gcg>Tcg	p.A305S	PLXNA1_ENST00000251772.4_Missense_Mutation_p.A282S	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	305	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.A282S(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGCGAGCAGGCGGGTGTGGA	0.652000													38	139					4.14481e-20	5.76733e-20	0.025465	1	0
TMEM178A	130733	broad.mit.edu	37	2	39944312	39944312	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:39944312G>C	ENST00000281961.2	+	4	871	c.815G>C	c.(814-816)gGa>gCa	p.G272A	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2			transmembrane protein 178A									p.G272A(1)									GTGGCAGCTGGAGGTCTCTGC	0.512000													16	112					0	0	0.033300	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561550	145561550	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:145561550A>G	ENST00000355594.4	+	10	1325	c.1238A>G	c.(1237-1239)cAg>cGg	p.Q413R		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	413								p.Q413R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAAAGATCCAGTATGAAGTC	0.537000													7	38					0	0	0.038147	0	0
TENM1	10178	broad.mit.edu	37	X	123540180	123540180	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:123540180A>T	ENST00000422452.2	-	26	5205	c.5142T>A	c.(5140-5142)taT>taA	p.Y1714*	TENM1_ENST00000371130.3_Nonsense_Mutation_p.Y1707*|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.Y1709*(1)									GTTTTAAAATATATATGGTAC	0.413000													23	181					0	0	0.016522	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343039	130343039	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr11:130343039C>T	ENST00000299164.2	+	8	2176	c.2176C>T	c.(2176-2178)Ctg>Ttg	p.L726L		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	726	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L726L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TGACAACTACCTGGCTCTGAA	0.607000													16	31					0	0	0.024245	0	0
SI	6476	broad.mit.edu	37	3	164764690	164764690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:164764690C>T	ENST00000264382.3	-	16	1888	c.1826G>A	c.(1825-1827)tGg>tAg	p.W609*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	609	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.W609L(1)|p.W609*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CATTTGTTCCCATGAAGCAGT	0.393000										HNSCC(35;0.089)			26	128					0	0	0.034045	0	0
TCHH	7062	broad.mit.edu	37	1	152082275	152082275	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:152082275A>T	ENST00000368804.1	-	2	3417	c.3418T>A	c.(3418-3420)Tat>Aat	p.Y1140N		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1140	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.Y1140N(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcctcccgatattgcctctcc	0.607000													11	50					0	0	0.008291	0	0
ALOX15	246	broad.mit.edu	37	17	4535475	4535475	+	Splice_Site	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr17:4535475C>A	ENST00000570836.1	-	13	1738		c.e13+1		ALOX15_ENST00000545513.1_Splice_Site|ALOX15_ENST00000293761.3_Splice_Site|ALOX15_ENST00000574640.1_Splice_Site			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase						inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CTGGTAAGTACCTGGCCCAGG	0.597000													17	33					0.00074312	0.000825455	0.038395	1	0
UHMK1	127933	broad.mit.edu	37	1	162470787	162470787	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:162470787G>C	ENST00000489294.1	+	3	804	c.646G>C	c.(646-648)Gat>Cat	p.D216H	UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000545294.1_Missense_Mutation_p.D142H|UHMK1_ENST00000538489.1_Missense_Mutation_p.D216H	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	216	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	p.D216H(2)		endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CCTGCAGAGTGATACAGAATG	0.433000													4	49					0	0	0.009096	0	0
HCN1	348980	broad.mit.edu	37	5	45396782	45396782	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr5:45396782C>G	ENST00000303230.4	-	4	1099	c.1042G>C	c.(1042-1044)Gca>Cca	p.A348P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	348						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.A348T(2)|p.A348P(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTGAAGAGTGCGTATGAATAC	0.448000													23	70					0	0	0.018920	0	0
FLNA	2316	broad.mit.edu	37	X	153590146	153590146	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:153590146C>A	ENST00000422373.1	-	20	3084	c.2836G>T	c.(2836-2838)Ggc>Tgc	p.G946C	FLNA_ENST00000344736.4_Missense_Mutation_p.G946C|FLNA_ENST00000369850.3_Missense_Mutation_p.G946C|FLNA_ENST00000360319.4_Missense_Mutation_p.G946C	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	946					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.G946C(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACATTGACGCCTACTGGACCC	0.567000													5	38					0.00116845	0.00128332	0.021553	1	0
LTBP4	8425	broad.mit.edu	37	19	41129916	41129916	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:41129916G>C	ENST00000308370.7	+	30	3959	c.3959G>C	c.(3958-3960)tGt>tCt	p.C1320S	LTBP4_ENST00000396819.3_Missense_Mutation_p.C1253S|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.C1283S|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.C688S	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1321	EGF-like 14; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.C1320S(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTTATCACTGTACCTGCGAG	0.637000													4	20					0	0	0.009096	0	0
OR4K1	79544	broad.mit.edu	37	14	20404199	20404199	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr14:20404199C>A	ENST00000285600.4	+	1	433	c.374C>A	c.(373-375)gCc>gAc	p.A125D		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A125D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGATTTATAGCCATATGTAAG	0.443000													27	192					2.12542e-12	2.83631e-12	0.030593	1	0
GLCE	26035	broad.mit.edu	37	15	69561478	69561478	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr15:69561478C>G	ENST00000261858.2	+	5	1977	c.1749C>G	c.(1747-1749)atC>atG	p.I583M	GLCE_ENST00000559420.2_Missense_Mutation_p.I519M	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	583					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	p.I583M(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CCACCCACATCAATCAGTTGC	0.493000													47	219					0	0	0.014410	0	0
TP53	7157	broad.mit.edu	37	17	7577536	7577536	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr17:7577536T>C	ENST00000420246.2	-	7	877	c.745A>G	c.(745-747)Agg>Ggg	p.R249G	TP53_ENST00000269305.4_Missense_Mutation_p.R249G|TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000359597.4_Missense_Mutation_p.R249G|TP53_ENST00000413465.2_Missense_Mutation_p.R249G|TP53_ENST00000455263.2_Missense_Mutation_p.R249G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGATGGGCCTCCGGTTCATG	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	41					0	0	0.008291	0	0
LETM1	3954	broad.mit.edu	37	4	1823941	1823941	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr4:1823941C>T	ENST00000302787.2	-	10	1871	c.1575G>A	c.(1573-1575)ttG>ttA	p.L525L		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	525					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	p.L525L(1)		breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CAGTGTCCTTCAAGGTCTCTG	0.602000													11	39					0	0	0.010729	0	0
SP140	11262	broad.mit.edu	37	2	231174740	231174740	+	Silent	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:231174740T>A	ENST00000392045.3	+	23	2274	c.2160T>A	c.(2158-2160)ccT>ccA	p.P720P	SP140_ENST00000420434.3_Silent_p.P693P|SP140_ENST00000350136.5_Silent_p.P589P|SP140_ENST00000486687.2_Silent_p.P644P|SP140_ENST00000417495.3_Silent_p.P606P|SP140_ENST00000343805.6_Silent_p.P660P	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	720					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P720P(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACATCCCGCCTGTGGAAGCTG	0.547000													4	48					0	0	0.014758	0	0
CPT1A	1374	broad.mit.edu	37	11	68548137	68548137	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr11:68548137C>A	ENST00000265641.5	-	12	1583	c.1429G>T	c.(1429-1431)Gat>Tat	p.D477Y	CPT1A_ENST00000376618.2_Missense_Mutation_p.D477Y|CPT1A_ENST00000539743.1_Missense_Mutation_p.D477Y|CPT1A_ENST00000540367.1_Missense_Mutation_p.D477Y	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	477					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.D477Y(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ATCGGCGCATCTGCCCAGGAG	0.502000													12	33					1.5842e-08	1.97268e-08	0.016723	1	0
TMF1	7110	broad.mit.edu	37	3	69097192	69097192	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:69097192T>C	ENST00000543976.1	-	2	910	c.664A>G	c.(664-666)Aca>Gca	p.T222A	CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.T222A|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	222					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	p.T222A(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		ATGTCCTTTGTTTCTGCTGTG	0.393000													39	134					0	0	0.027894	0	0
GP5	2814	broad.mit.edu	37	3	194117342	194117342	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:194117342C>A	ENST00000401815.1	-	1	1741	c.1670G>T	c.(1669-1671)aGa>aTa	p.R557I	GP5_ENST00000323007.3_Missense_Mutation_p.R557I			P40197	GPV_HUMAN	glycoprotein V (platelet)	557					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		p.R557I(2)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CCCAAGGGCTCTCTCTCTGAT	0.438000													76	245					1.16018e-38	1.68636e-38	0.014410	1	0
LOC146880	146880	broad.mit.edu	37	17	62750577	62750577	+	RNA	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr17:62750577G>C	ENST00000400873.3	-	0	2036					NR_026899.1																						ACTAATCCATGATTCACAACT	0.423000													37	148					0	0	0.019004	0	0
CEP192	55125	broad.mit.edu	37	18	13124693	13124693	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr18:13124693C>G	ENST00000506447.1	+	45	7618	c.7538C>G	c.(7537-7539)gCt>gGt	p.A2513G	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.A2038G|CEP192_ENST00000325971.8_Missense_Mutation_p.A1917G	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	2108								p.A2513G(1)|p.A1917G(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAATTTGAAGCTTTGCTTGTC	0.413000													4	37					0	0	0.009096	0	0
SRSF4	6429	broad.mit.edu	37	1	29475666	29475666	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:29475666G>A	ENST00000546138.1	-	4	581	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	SRSF4_ENST00000373795.4_Silent_p.S247S|SRSF4_ENST00000466448.1_5'UTR			Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	0	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	p.S247S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TGGGGCTCCTGCTTTTCTCTT	0.587000													13	131					0	0	0.016723	0	0
ASH1L	55870	broad.mit.edu	37	1	155452127	155452127	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:155452127C>T	ENST00000368346.3	-	3	1173	c.534G>A	c.(532-534)ctG>ctA	p.L178L	ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Silent_p.L178L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	178					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.L178L(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTACTGGAGACAGCTTCTTAG	0.418000													42	185					0	0	0.045515	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535180	90535180	+	RNA	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr9:90535180C>T	ENST00000602681.1	+	0	1084																											CCTGGGGCCACACCTTGAAAA	0.632000													8	26					0	0	0.006214	0	0
BTBD2	55643	broad.mit.edu	37	19	1986642	1986642	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:1986642C>T	ENST00000255608.4	-	9	1439	c.1423G>A	c.(1423-1425)Gac>Aac	p.D475N		NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	475						cytoplasmic mRNA processing body	protein binding	p.D475N(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGTGGGAGTCTGGGCCCTGT	0.647000													5	42					0	0	0.014758	0	0
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:155252868T>A	ENST00000285718.7	+	0	819				WASH6P_ENST00000461007.1_RNA														p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632000													4	5					0	0	0.009096	0	0
CHML	1122	broad.mit.edu	37	1	241797473	241797473	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:241797473C>T	ENST00000366553.1	-	1	1759	c.1596G>A	c.(1594-1596)ccG>ccA	p.P532P	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	532					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.P532P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTTCAGTATACGGAGTGAATA	0.383000													7	63					0	0	0.029380	0	0
FNDC3B	64778	broad.mit.edu	37	3	172098807	172098807	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:172098807C>G	ENST00000336824.4	+	25	3326	c.3227C>G	c.(3226-3228)aCg>aGg	p.T1076R	FNDC3B_ENST00000416957.1_Missense_Mutation_p.T1076R|FNDC3B_ENST00000415807.2_Missense_Mutation_p.T1076R	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1076	Fibronectin type-III 9.					endoplasmic reticulum|integral to membrane		p.T1076R(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTATGGGAGACGGTACCATCA	0.398000													36	138					0	0	0.017118	0	0
USH2A	7399	broad.mit.edu	37	1	216246251	216246251	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:216246251C>T	ENST00000366943.2	-	29	6223	c.5837G>A	c.(5836-5838)cGa>cAa	p.R1946Q	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.R1946Q|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1946	Fibronectin type-III 5.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R1946Q(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTACGTCCTCGACTCCAATC	0.363000										HNSCC(13;0.011)			13	131					0	0	0.020292	0	0
EPHA4	2043	broad.mit.edu	37	2	222298897	222298897	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:222298897C>A	ENST00000281821.2	-	14	2502	c.2461G>T	c.(2461-2463)Ggg>Tgg	p.G821W	EPHA4_ENST00000409938.1_Missense_Mutation_p.G821W|EPHA4_ENST00000392071.4_Missense_Mutation_p.G770W|EPHA4_ENST00000409854.1_Missense_Mutation_p.G821W	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	821	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G821W(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGCCTCTCCCCGTACGACATC	0.418000													37	90					4.14481e-20	5.76733e-20	0.025465	1	0
KPNA3	3839	broad.mit.edu	37	13	50307098	50307098	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr13:50307098T>C	ENST00000261667.3	-	3	613	c.199A>G	c.(199-201)Aaa>Gaa	p.K67E		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	67					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	p.K67E(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CTTACTGCTTTAAAATCAGCA	0.274000													37	58					0	0	0.025465	0	0
LAMA1	284217	broad.mit.edu	37	18	6999564	6999564	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr18:6999564C>A	ENST00000389658.3	-	32	4636	c.4543G>T	c.(4543-4545)Ggc>Tgc	p.G1515C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1515	Laminin EGF-like 17.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G1515C(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGACAGAGCCGTGCGGGTTG	0.587000													6	25					0.00116845	0.00128332	0.021553	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43777469	43777469	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:43777469G>C	ENST00000389420.3	-	31	4688	c.4689C>G	c.(4687-4689)atC>atG	p.I1563M		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1563	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding	p.I1563M(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCACTTGTCTGATTTGGTTAT	0.353000													7	51					0	0	0.029380	0	0
PAPOLG	64895	broad.mit.edu	37	2	60988923	60988923	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:60988923C>T	ENST00000238714.3	+	3	476	c.227C>T	c.(226-228)tCt>tTt	p.S76F		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	76					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	p.S76F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			GAATGGATTTCTGATGTCAGC	0.328000													23	153					0	0	0.018920	0	0
MYF6	4618	broad.mit.edu	37	12	81101699	81101699	+	Silent	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:81101699C>A	ENST00000228641.3	+	1	423	c.201C>A	c.(199-201)ggC>ggA	p.G67G		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	67					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.G67G(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CGCCCCCGGGCCTGCAGCCTC	0.652000													12	37					0.010729	0.0112468	0.010729	1	0
IFNB1	3456	broad.mit.edu	37	9	21077565	21077565	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr9:21077565C>T	ENST00000380232.2	-	1	378	c.304G>A	c.(304-306)Gag>Aag	p.E102K		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	102					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	p.E102K(1)		breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	ACAATAGTCTCATTCCAGCCA	0.448000													33	194					0	0	0.013726	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489434	20489434	+	RNA	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr15:20489434C>T	ENST00000555186.1	+	0	422					NR_038836.1																						CACTGAAGGACCAGATCACCA	0.413000													3	30					0	0	0.029380	0	0
TP63	8626	broad.mit.edu	37	3	189590692	189590692	+	Silent	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:189590692G>A	ENST00000264731.3	+	10	1346	c.1257G>A	c.(1255-1257)gaG>gaA	p.E419E	TP63_ENST00000320472.5_Silent_p.E419E|TP63_ENST00000392461.3_Silent_p.E325E|TP63_ENST00000382063.4_Silent_p.E334E|TP63_ENST00000437221.1_Silent_p.E325E|TP63_ENST00000392460.3_Silent_p.E419E|TP63_ENST00000418709.2_Silent_p.E419E|TP63_ENST00000440651.2_Silent_p.E415E|TP63_ENST00000456148.1_Silent_p.E321E|TP63_ENST00000354600.5_Silent_p.E325E|TP63_ENST00000449992.1_Silent_p.E240E|TP63_ENST00000392463.2_Silent_p.E325E	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	419	Oligomerization.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E419E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGATCAAAGAGTCCCTGGAAC	0.458000										HNSCC(45;0.13)			12	60					0	0	0.010729	0	0
PIK3C3	5289	broad.mit.edu	37	18	39617691	39617691	+	Silent	SNP	G	G	T	rs145164124	byFrequency	TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr18:39617691G>T	ENST00000262039.4	+	17	1961	c.1875G>T	c.(1873-1875)acG>acT	p.T625T	PIK3C3_ENST00000398870.3_Silent_p.T562T|PIK3C3_ENST00000593098.1_Silent_p.T110T	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	625					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	p.T625T(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTTTTAAGACGGAAGATGGAG	0.328000										TSP Lung(28;0.18)			26	140					3.01185e-09	3.82348e-09	0.021523	1	0
CDC16	8881	broad.mit.edu	37	13	115037862	115037862	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr13:115037862G>A	ENST00000360383.3	+	18	2005	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	CDC16_ENST00000375310.1_Missense_Mutation_p.E509K|CDC16_ENST00000252458.6_Missense_Mutation_p.E458K|CDC16_ENST00000252457.5_Missense_Mutation_p.E602K|CDC16_ENST00000375312.3_Missense_Mutation_p.E458K|CDC16_ENST00000356221.3_Missense_Mutation_p.E603K|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000375308.1_Missense_Mutation_p.E509K	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	603					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	p.E602K(1)		endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			CTTTGAAATTGAAATGAATGA	0.453000													13	24					0	0	0.016723	0	0
MAP2K4	6416	broad.mit.edu	37	17	12032561	12032561	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr17:12032561G>T	ENST00000415385.3	+	10	1083	c.1030G>T	c.(1030-1032)Gaa>Taa	p.E344*	MAP2K4_ENST00000353533.5_Nonsense_Mutation_p.E333*			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	333	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)|p.E333*(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TAATTCTGAGGAAAGGGAATT	0.438000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								13	52					9.31168e-06	1.10329e-05	0.016723	1	0
TRHDE	29953	broad.mit.edu	37	12	73056972	73056972	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:73056972C>A	ENST00000261180.4	+	19	3168	c.3072C>A	c.(3070-3072)caC>caA	p.H1024Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1024					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.H1024Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTCTAAGACACTAATATATGT	0.388000													8	44					0.00307968	0.00327216	0.038147	1	0
LCT	3938	broad.mit.edu	37	2	136562355	136562355	+	Silent	SNP	G	G	A	rs148768579		TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:136562355G>A	ENST00000264162.2	-	10	4456	c.4446C>T	c.(4444-4446)gcC>gcT	p.A1482A		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1482	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.A1482A(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGATGCTGGCGGCCAGCAGTG	0.562000													18	46					0	0	0.008871	0	0
CST11	140880	broad.mit.edu	37	20	23431200	23431200	+	Silent	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr20:23431200A>G	ENST00000377009.3	-	3	393	c.360T>C	c.(358-360)ttT>ttC	p.F120F	CST11_ENST00000377007.3_Silent_p.F85F	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	120					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	p.F120F(1)		kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGGGTACAGCAAACACTGAGA	0.408000													11	26					0	0	0.010729	0	0
GPATCH4	54865	broad.mit.edu	37	1	156568897	156568897	+	Splice_Site	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:156568897C>T	ENST00000368232.4	-	2	75		c.e2-1		GPATCH4_ENST00000438976.2_Intron|GPATCH4_ENST00000334588.7_Splice_Site	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4							intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGATATCATCCTTTTAAGAAG	0.448000													9	19					0	0	0.004482	0	0
HCFC1	3054	broad.mit.edu	37	X	153220590	153220590	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:153220590G>T	ENST00000310441.7	-	17	4226	c.3260C>A	c.(3259-3261)aCc>aAc	p.T1087N	HCFC1_ENST00000354233.3_Missense_Mutation_p.T1018N|HCFC1_ENST00000369984.4_Missense_Mutation_p.T1087N	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1087					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.T990N(1)|p.T1087N(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ggtgttggtggtgCCCGTCTC	0.652000													4	30					0.00909568	0.00956024	0.009096	1	0
TMEM2	23670	broad.mit.edu	37	9	74359946	74359946	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr9:74359946C>G	ENST00000377044.4	-	4	1561	c.1022G>C	c.(1021-1023)gGa>gCa	p.G341A	TMEM2_ENST00000377066.5_Missense_Mutation_p.G341A	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	341						integral to membrane		p.G341A(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GTAGCCCAGTCCTTGGATCAG	0.537000													26	75					0	0	0.024334	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585461	70585461	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr8:70585461G>T	ENST00000260126.3	-	10	2896	c.2190C>A	c.(2188-2190)aaC>aaA	p.N730K	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.N675K	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	730						integral to membrane|plasma membrane	transporter activity	p.N730K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ACGACGTCACGTTGTACTCCC	0.453000													41	149					2.22293e-35	3.20726e-35	0.014410	1	0
COL15A1	1306	broad.mit.edu	37	9	101749598	101749598	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr9:101749598T>A	ENST00000375001.3	+	4	1094	c.671T>A	c.(670-672)gTg>gAg	p.V224E		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	224	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.V224E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAGCTCACCGTGCACCCCGAC	0.607000													35	153					0	0	0.021022	0	0
INSIG2	51141	broad.mit.edu	37	2	118860814	118860814	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:118860814G>T	ENST00000245787.4	+	3	492	c.286G>T	c.(286-288)Gga>Tga	p.G96*	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	96					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		p.G96S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						CAGACATCTAGGAGAACCACA	0.388000													28	147					7.01153e-11	9.10801e-11	0.034045	1	0
ABCB5	340273	broad.mit.edu	37	7	20685483	20685483	+	Silent	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr7:20685483C>A	ENST00000404938.2	+	8	1435	c.783C>A	c.(781-783)gcC>gcA	p.A261A		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	447	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.A261A(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CCTTTAGGGCCCAGGAGAAAG	0.403000													40	109					2.00842e-17	2.74578e-17	0.039052	1	0
ARID2	196528	broad.mit.edu	37	12	46285565	46285565	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:46285565G>T	ENST00000334344.6	+	17	5097	c.4925G>T	c.(4924-4926)tGg>tTg	p.W1642L	ARID2_ENST00000444670.1_Missense_Mutation_p.W1252L|ARID2_ENST00000422737.1_Missense_Mutation_p.W1493L|ARID2_ENST00000457135.1_Missense_Mutation_p.W250L|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1642					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.W1642L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTTATAGGTGGTTTCAGACA	0.363000			"""N, S, F"""		hepatocellular carcinoma								11	91					5.50884e-06	6.54698e-06	0.013537	1	0
NMNAT2	23057	broad.mit.edu	37	1	183247699	183247699	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:183247699T>C	ENST00000287713.6	-	8	974	c.640A>G	c.(640-642)Aac>Gac	p.N214D	NMNAT2_ENST00000294868.4_Missense_Mutation_p.N209D	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	214					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	p.N214D(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						TCTGCCTCGTTCCAGAGCCCT	0.542000													4	28					0	0	0.009096	0	0
CPEB1	64506	broad.mit.edu	37	15	83240093	83240093	+	Splice_Site	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr15:83240093C>T	ENST00000563800.1	-	3	2186		c.e3+1		CPEB1_ENST00000398591.2_Splice_Site|CPEB1_ENST00000398592.2_Splice_Site|CPEB1_ENST00000450751.2_Splice_Site|CPEB1_ENST00000568128.1_Splice_Site|CPEB1_ENST00000562019.1_Splice_Site|CPEB1_ENST00000568757.1_Splice_Site|CPEB1_ENST00000423133.2_Splice_Site|CPEB1_ENST00000564522.1_Splice_Site|CPEB1_ENST00000261723.6_Splice_Site			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1						mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	p.?(2)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CTGGCACTCACCCGAGTGTGT	0.577000													4	31					0	0	0.014758	0	0
DGKG	1608	broad.mit.edu	37	3	185975687	185975687	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:185975687G>T	ENST00000265022.3	-	17	2005	c.1466C>A	c.(1465-1467)gCc>gAc	p.A489D	DGKG_ENST00000544847.1_Missense_Mutation_p.A430D|DGKG_ENST00000344484.4_Missense_Mutation_p.A464D|DGKG_ENST00000382164.4_Missense_Mutation_p.A450D	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	489	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.A489D(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCCACCACAGGCCAAAACACG	0.448000													7	84					0.000157383	0.000180991	0.038147	1	0
CDH5	1003	broad.mit.edu	37	16	66434680	66434680	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr16:66434680C>T	ENST00000341529.3	+	11	1746	c.1598C>T	c.(1597-1599)aCg>aTg	p.T533M	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	533	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	p.T533M(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCAGATAACACGGCCAACATC	0.567000													32	65					0	0	0.013726	0	0
IRGQ	126298	broad.mit.edu	37	19	44097241	44097241	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:44097241G>A	ENST00000422989.1	-	3	964	c.809C>T	c.(808-810)cCg>cTg	p.P270L	IRGQ_ENST00000602269.1_Missense_Mutation_p.P270L	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	270							protein binding	p.P270L(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CACCACATTCGGGCGCTCTGG	0.682000													4	18					0	0	0.009096	0	0
FLAD1	80308	broad.mit.edu	37	1	154956263	154956263	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:154956263C>T	ENST00000368433.1	+	1	436	c.93C>T	c.(91-93)ctC>ctT	p.L31L	FLAD1_ENST00000368431.3_Intron|FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000292180.3_Silent_p.L31L|FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000368432.1_Intron			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	31					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	p.L31L(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGTCTTCCTCGAAGGAAGCA	0.552000													13	103					0	0	0.013537	0	0
LRRC1	55227	broad.mit.edu	37	6	53660211	53660211	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr6:53660211G>C	ENST00000370888.1	+	1	434	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	LRRC1_ENST00000370882.1_Missense_Mutation_p.E53Q	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	53						cytoplasm|membrane		p.E53Q(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CGAGCTGCCCGAGGTAAGGGT	0.682000													3	14					0	0	0.004672	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454937	84454937	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr13:84454937T>C	ENST00000377084.2	-	1	1591	c.706A>G	c.(706-708)Atc>Gtc	p.I236V		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	236	LRRCT 1.					integral to membrane		p.I236V(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ACTCGGCCGATCAGGGCATTC	0.522000													15	33					0	0	0.020292	0	0
THOC2	57187	broad.mit.edu	37	X	122747258	122747258	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:122747258C>T	ENST00000245838.8	-	36	4700	c.4669G>A	c.(4669-4671)Ggc>Agc	p.G1557S	THOC2_ENST00000464992.1_5'UTR|THOC2_ENST00000491737.1_Missense_Mutation_p.G1442S|THOC2_ENST00000355725.4_Missense_Mutation_p.G1557S	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1557	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.G1557I(1)|p.G1478I(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACCTTTTTGCCACCGGAGGAG	0.284000													8	126					0	0	0.004482	0	0
PTGER3	5733	broad.mit.edu	37	1	71512458	71512458	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:71512458T>A	ENST00000370924.4	-	1	1033	c.803A>T	c.(802-804)cAg>cTg	p.Q268L	PTGER3_ENST00000414819.1_Missense_Mutation_p.Q268L|PTGER3_ENST00000356595.4_Missense_Mutation_p.Q268L|PTGER3_ENST00000460330.1_Missense_Mutation_p.Q268L|PTGER3_ENST00000351052.5_Missense_Mutation_p.Q268L|PTGER3_ENST00000370932.2_Missense_Mutation_p.Q268L|PTGER3_ENST00000370931.3_Missense_Mutation_p.Q268L|PTGER3_ENST00000354608.5_Missense_Mutation_p.Q268L|PTGER3_ENST00000306666.5_Missense_Mutation_p.Q268L	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	268					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	p.Q268L(5)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GGCACTGGACTGAGATGCCGT	0.637000													5	48					0	0	0.014758	0	0
ASB5	140458	broad.mit.edu	37	4	177143487	177143487	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr4:177143487T>C	ENST00000296525.3	-	3	474	c.361A>G	c.(361-363)Act>Gct	p.T121A	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Missense_Mutation_p.T68A	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	121					intracellular signal transduction			p.T121A(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TCCAGCAGAGTTCTGGCACAT	0.418000													12	50					0	0	0.016723	0	0
ZNF790	388536	broad.mit.edu	37	19	37314611	37314611	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:37314611T>A	ENST00000356725.4	-	3	211	c.91A>T	c.(91-93)Aga>Tga	p.R31*	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R31*(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATCACATCTCTATATAAATCC	0.403000													23	108					0	0	0.027356	0	0
ZNF420	147923	broad.mit.edu	37	19	37619928	37619928	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:37619928G>T	ENST00000337995.3	+	5	2250	c.2035G>T	c.(2035-2037)Gac>Tac	p.D679Y	ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000586540.1_Intron|ZNF420_ENST00000304239.7_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D679Y(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGTGGGATTGACTTTAGTCA	0.373000													33	145					9.8876e-21	1.38568e-20	0.021022	1	0
OR4C16	219428	broad.mit.edu	37	11	55340087	55340087	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr11:55340087C>A	ENST00000314634.3	+	1	484	c.484C>A	c.(484-486)Ctg>Atg	p.L162M		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L162M(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTTTCTTGCCCTGAGTTTGCC	0.473000													17	96					3.99206e-14	5.38239e-14	0.043863	1	0
SPICE1	152185	broad.mit.edu	37	3	113225387	113225387	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:113225387C>G	ENST00000295872.4	-	2	325	c.66G>C	c.(64-66)aaG>aaC	p.K22N		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	22					cell division|mitosis	centriole|spindle	protein binding	p.K22N(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TTTTCTTCTTCTTTACTTTCG	0.378000													10	33					0	0	0.008291	0	0
AQP4	361	broad.mit.edu	37	18	24441225	24441225	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr18:24441225A>T	ENST00000383168.4	-	3	610	c.482T>A	c.(481-483)cTg>cAg	p.L161Q	AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.L139Q|AQP4_ENST00000440832.3_Missense_Mutation_p.L139Q|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	161					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	p.L161Q(1)		kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CAACTCAACCAGGAGACCATG	0.373000													6	55					0	0	0.021553	0	0
CEACAM8	1088	broad.mit.edu	37	19	43093016	43093016	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:43093016T>A	ENST00000244336.5	-	4	979	c.878A>T	c.(877-879)aAc>aTc	p.N293I	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	293	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular space|integral to plasma membrane		p.N293I(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GGATCCGCTGTTCTTTGTAGT	0.507000													17	67					0	0	0.028581	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890089	23890089	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr15:23890089C>A	ENST00000532292.1	-	1	1086	c.992G>T	c.(991-993)tGg>tTg	p.W331L		NM_019066.4	NP_061939.3			MAGE-like 2									p.W331L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGGGTGCTCCCAGTCACCCGA	0.632000													4	40					0.0215528	0.0224126	0.021553	1	0
FIGN	55137	broad.mit.edu	37	2	164468117	164468117	+	Nonsense_Mutation	SNP	A	A	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:164468117A>C	ENST00000333129.3	-	3	539	c.225T>G	c.(223-225)taT>taG	p.Y75*	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	75						nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.Y75*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AAATGCCGGAATACTTCTCTG	0.483000													7	158					0	0	0.029380	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6981129	6981129	+	RNA	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:6981129G>T	ENST00000600751.1	-	0	550					NR_024075.1													p.A168D(1)									TCCTGGAGAAGCAAAACTCGC	0.428000													4	20					0.00024832	0.000282247	0.009096	1	0
PDIA2	64714	broad.mit.edu	37	16	335705	335705	+	Splice_Site	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr16:335705T>A	ENST00000219406.6	+	7	1137		c.e7+2		PDIA2_ENST00000404312.1_Splice_Site	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2						apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	p.?(1)		breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CAAGTCAAGGTCCGCTGCAGA	0.602000													4	18					0	0	0.009096	0	0
DCAF7	10238	broad.mit.edu	37	17	61655948	61655948	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr17:61655948G>T	ENST00000310827.4	+	2	473	c.256G>T	c.(256-258)Gac>Tac	p.D86Y	DCAF7_ENST00000431926.1_Missense_Mutation_p.D86Y|DCAF7_ENST00000415273.2_Intron|DCAF7_ENST00000577702.1_3'UTR	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	86					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding	p.D86Y(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						CGTCTATCCAGACCTACTGGC	0.502000													46	110					1.02067e-35	1.47808e-35	0.014410	1	0
DRC1	92749	broad.mit.edu	37	2	26678075	26678075	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:26678075C>T	ENST00000288710.2	+	16	2214	c.2140C>T	c.(2140-2142)Cta>Tta	p.L714L		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)									p.L714L(1)									GCTGCAGGCGCTACTGCAGCA	0.602000													11	107					0	0	0.010729	0	0
ADCY2	108	broad.mit.edu	37	5	7717298	7717298	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr5:7717298G>C	ENST00000338316.4	+	12	1740	c.1651G>C	c.(1651-1653)Gaa>Caa	p.E551Q	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.E371Q	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	551					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.E551Q(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAGATTTGAAGAAGAATTGAA	0.274000													11	131					0	0	0.016723	0	0
SLC39A6	25800	broad.mit.edu	37	18	33694102	33694102	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr18:33694102T>C	ENST00000269187.5	-	7	2014	c.1801A>G	c.(1801-1803)Atg>Gtg	p.M601V	SLC39A6_ENST00000590986.1_Missense_Mutation_p.M601V|SLC39A6_ENST00000440549.2_Missense_Mutation_p.M326V	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	601						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	p.M601V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CCATCACCCATTATCACCATC	0.483000													5	41					0	0	0.021553	0	0
NLRP5	126206	broad.mit.edu	37	19	56565024	56565024	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:56565024C>A	ENST00000390649.3	+	13	3149	c.3149C>A	c.(3148-3150)aCc>aAc	p.T1050N		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1050						mitochondrion|nucleolus	ATP binding	p.T1050N(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGTCATCTCACCGCCGCGTGC	0.562000													8	18					3.09899e-07	3.76305e-07	0.004482	1	0
SYNE2	23224	broad.mit.edu	37	14	64610661	64610661	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr14:64610661A>G	ENST00000357395.3	+	84	15777	c.4633A>G	c.(4633-4635)Aga>Gga	p.R1545G	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5160G|SYNE2_ENST00000344113.4_Missense_Mutation_p.R5160G|SYNE2_ENST00000394768.2_Missense_Mutation_p.R1545G|SYNE2_ENST00000554584.1_Missense_Mutation_p.R5077G|SYNE2_ENST00000555002.1_Missense_Mutation_p.R1794G			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5160					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.R5160G(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATGCTGAATAGAAAGGTGTG	0.443000													46	165					0	0	0.042209	0	0
TDRD10	126668	broad.mit.edu	37	1	154480955	154480955	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:154480955A>T	ENST00000368482.4	+	4	977	c.139A>T	c.(139-141)Aag>Tag	p.K47*	TDRD10_ENST00000368480.3_Nonsense_Mutation_p.K47*	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	47	RRM.						nucleotide binding|RNA binding	p.K47*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGATATTTCTAAGGTATTTAT	0.373000													28	116					0	0	0.037714	0	0
CACNA1C	775	broad.mit.edu	37	12	2621976	2621976	+	Splice_Site	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:2621976A>G	ENST00000399655.1	+	9	1482		c.e9-1		CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000347598.4_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000480911.1_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000491104.1_Splice_Site	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.?(4)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CACTCTCACCAGAGAGTTTTC	0.557000													8	19					0	0	0.038147	0	0
IDUA	3425	broad.mit.edu	37	4	997818	997818	+	Silent	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr4:997818G>A	ENST00000453894.1	+	10	1900	c.1812G>A	c.(1810-1812)gaG>gaA	p.E604E	IDUA_ENST00000514224.1_Silent_p.E450E|IDUA_ENST00000247933.4_Silent_p.E582E			P35475	IDUA_HUMAN	iduronidase, alpha-L-	582					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity	p.E582E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	GGACATACGAGATCCAGTTCT	0.622000													29	132					0	0	0.045705	0	0
IRGQ	126298	broad.mit.edu	37	19	44096657	44096657	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:44096657C>A	ENST00000422989.1	-	3	1548	c.1393G>T	c.(1393-1395)Gca>Tca	p.A465S	L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000602269.1_Missense_Mutation_p.A465S|IRGQ_ENST00000601520.1_Intron	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	465	Ala-rich.						protein binding	p.A465S(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CTGGGAGATGCTGGTGGCAAC	0.731000													5	17					0.0215528	0.0224126	0.021553	1	0
GPD2	2820	broad.mit.edu	37	2	157407174	157407174	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:157407174C>T	ENST00000310454.6	+	8	1259	c.887C>T	c.(886-888)tCt>tTt	p.S296F	GPD2_ENST00000409674.1_Missense_Mutation_p.S296F|GPD2_ENST00000438166.2_Missense_Mutation_p.S296F|GPD2_ENST00000540309.1_Missense_Mutation_p.S296F|GPD2_ENST00000409125.4_Missense_Mutation_p.S69F	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	296					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	p.S296F(1)|p.S296Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						TTCACGGACTCTGTGCGCAAA	0.458000													10	60					0	0	0.006214	0	0
MYO15A	51168	broad.mit.edu	37	17	18040988	18040988	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr17:18040988G>A	ENST00000205890.5	+	16	5208	c.4870G>A	c.(4870-4872)Gag>Aag	p.E1624K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1624	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.E1624K(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTTCCAGGAGGAGCAGGTGTG	0.498000													7	16					0	0	0.029380	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118006123	118006123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr4:118006123C>A	ENST00000310754.4	-	1	613	c.427G>T	c.(427-429)Gaa>Taa	p.E143*		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	143	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.E143*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGGCAGTTTTCAGAGATTAAA	0.393000													24	84					9.57634e-11	1.23576e-10	0.018920	1	0
P2RY10	27334	broad.mit.edu	37	X	78216922	78216922	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:78216922C>A	ENST00000171757.2	+	4	1185	c.905C>A	c.(904-906)cCa>cAa	p.P302Q	P2RY10_ENST00000544091.1_Missense_Mutation_p.P302Q	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	302						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.P302K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CTTTTGGATCCAATTCTTTAT	0.488000													22	184					1.42536e-11	1.87648e-11	0.024334	1	0
OR11H1	81061	broad.mit.edu	37	22	16449060	16449060	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr22:16449060T>C	ENST00000252835.4	-	1	745	c.745A>G	c.(745-747)Aga>Gga	p.R249G		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R249G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		GCCTTATGTCTCCCAGTGCTT	0.438000													36	127					0	0	0.039052	0	0
RGS22	26166	broad.mit.edu	37	8	101020769	101020769	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr8:101020769G>A	ENST00000360863.6	-	15	2389	c.2195C>T	c.(2194-2196)tCt>tTt	p.S732F	RGS22_ENST00000523437.1_Missense_Mutation_p.S720F|RGS22_ENST00000523287.1_Missense_Mutation_p.S551F	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	732					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.S732F(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAGAGTGGCAGAAGGAGCAAC	0.403000													11	82					0	0	0.010729	0	0
MYH2	4620	broad.mit.edu	37	17	10448685	10448685	+	Silent	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr17:10448685G>A	ENST00000245503.5	-	5	867	c.483C>T	c.(481-483)aaC>aaT	p.N161N	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.N161N|MYH2_ENST00000532183.1_Silent_p.N161N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	161	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.N161N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACTGATAGGCGTTGTCAGAGA	0.537000													23	179					0	0	0.027356	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136402557	136402557	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr9:136402557G>T	ENST00000393061.3	+	3	880	c.448G>T	c.(448-450)Ggg>Tgg	p.G150W	ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.G41W|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.G41W			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	41					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.G41W(1)		kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TAGCCTGGAGGGGGGCACCGA	0.672000													9	60					1.58986e-06	1.90686e-06	0.008291	1	0
CREB3L2	64764	broad.mit.edu	37	7	137686407	137686407	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr7:137686407G>T	ENST00000330387.6	-	1	396	c.45C>A	c.(43-45)gaC>gaA	p.D15E	CREB3L2_ENST00000452463.1_Missense_Mutation_p.D15E|CREB3L2_ENST00000456390.1_Missense_Mutation_p.D15E|CREB3L2_ENST00000468127.1_5'UTR	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	15					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCAGCTTGCGGTCCCACTGCA	0.721000			T	FUS	fibromyxoid sarcoma								7	27					4.68919e-08	5.74756e-08	0.008291	1	0
C9orf96	169436	broad.mit.edu	37	9	136251403	136251403	+	Translation_Start_Site	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr9:136251403G>A	ENST00000371955.1	+	0	283				C9orf96_ENST00000426926.2_Silent_p.L74L|C9orf96_ENST00000371957.3_Silent_p.L74L			Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96								ATP binding|protein kinase activity	p.L74L(2)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCTGGCAGCTGATGCCACTGC	0.577000													4	50					0	0	0.009096	0	0
NRROS	375387	broad.mit.edu	37	3	196387756	196387756	+	Silent	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:196387756C>A	ENST00000328557.4	+	3	1445	c.1242C>A	c.(1240-1242)ctC>ctA	p.L414L		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species									p.L414L(1)									CCAACCAGCTCCTGGGCGTCC	0.622000													23	107					7.87624e-14	1.05829e-13	0.016522	1	0
OR6K6	128371	broad.mit.edu	37	1	158725513	158725513	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:158725513T>A	ENST00000368144.2	+	1	1004	c.908T>A	c.(907-909)gTc>gAc	p.V303D		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V303D(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GCAATTGCTGTCACTTTTGTT	0.433000													30	80					0	0	0.037714	0	0
NALCN	259232	broad.mit.edu	37	13	102029295	102029295	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr13:102029295G>A	ENST00000251127.6	-	5	569	c.488C>T	c.(487-489)cCa>cTa	p.P163L	NALCN_ENST00000376196.3_Missense_Mutation_p.P163L|NALCN_ENST00000376200.5_Missense_Mutation_p.P163L|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	163						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.P163L(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTGGTCCTTGGCAGTTCAAA	0.378000													26	46					0	0	0.018920	0	0
MTMR12	54545	broad.mit.edu	37	5	32270928	32270928	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr5:32270928T>A	ENST00000382142.3	-	5	654	c.484A>T	c.(484-486)Aaa>Taa	p.K162*	MTMR12_ENST00000280285.5_Nonsense_Mutation_p.K162*|MTMR12_ENST00000264934.5_Nonsense_Mutation_p.K162*	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	162						cytoplasm	phosphatase activity	p.K162*(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTTACCCTTTTGACTTCCTCT	0.433000													16	151					0	0	0.033300	0	0
ATP6AP1	537	broad.mit.edu	37	X	153663818	153663818	+	Silent	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:153663818C>A	ENST00000369762.2	+	9	1231	c.1170C>A	c.(1168-1170)ccC>ccA	p.P390P		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	390					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.P390P(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCACGCAGCCCTCTCCCTGGC	0.612000													8	46					0.000274275	0.000308165	0.004482	1	0
LRFN1	57622	broad.mit.edu	37	19	39798860	39798860	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:39798860G>T	ENST00000248668.4	-	2	1728	c.1729C>A	c.(1729-1731)Ccg>Acg	p.P577T		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	577						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		p.P529T(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTGACCCGCGGGAGCGACCTG	0.692000													8	21					0.00307968	0.00327216	0.038147	1	0
MED13L	23389	broad.mit.edu	37	12	116453021	116453021	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:116453021C>G	ENST00000281928.3	-	8	1274	c.1068G>C	c.(1066-1068)atG>atC	p.M356I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	356					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.M356I(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCATCGTTATCATCCCTCCAT	0.458000													7	107					0	0	0.038147	0	0
PTGER4	5734	broad.mit.edu	37	5	40681297	40681297	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr5:40681297G>T	ENST00000302472.3	+	2	1226	c.202G>T	c.(202-204)Ggc>Tgc	p.G68C	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	68					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	p.G68C(1)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CGACCTGTTGGGCACTTTGTT	0.607000											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	78					0.00116845	0.00128332	0.021553	1	0
RNPS1	10921	broad.mit.edu	37	16	2313105	2313105	+	Silent	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr16:2313105G>A	ENST00000565678.1	-	4	956	c.411C>T	c.(409-411)tcC>tcT	p.S137S	RNPS1_ENST00000566458.1_Silent_p.S114S|RNPS1_ENST00000567147.1_Silent_p.S114S|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000569598.2_Silent_p.S43S|RNPS1_ENST00000568631.1_Silent_p.S137S|RNPS1_ENST00000397086.2_Silent_p.S137S|RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000301730.8_Silent_p.S137S|RNPS1_ENST00000320225.5_Silent_p.S137S			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	137	Arg-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding	p.S137S(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						ACTTGGAGCGGGAGCGCCTCC	0.577000													3	22					0	0	0.004672	0	0
ABCC9	10060	broad.mit.edu	37	12	22086858	22086858	+	Splice_Site	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:22086858C>A	ENST00000261200.4	-	2	142		c.e2-1		ABCC9_ENST00000345162.2_Splice_Site|ABCC9_ENST00000326684.4_Splice_Site|ABCC9_ENST00000538350.1_Splice_Site|ABCC9_ENST00000261201.4_Splice_Site	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9						defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.?(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTCCCCCACCCTGGAAAAGAG	0.393000													13	92					1.49906e-05	1.76546e-05	0.020292	1	0
TRHDE	29953	broad.mit.edu	37	12	73012716	73012716	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:73012716C>A	ENST00000261180.4	+	13	2328	c.2232C>A	c.(2230-2232)taC>taA	p.Y744*	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	744					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.Y744*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTATCAGATACCTGTCTGAGG	0.388000													11	87					9.70103e-10	1.23958e-09	0.008291	1	0
IRAK1	3654	broad.mit.edu	37	X	153279704	153279704	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:153279704T>G	ENST00000369980.3	-	11	1495	c.1328A>C	c.(1327-1329)gAg>gCg	p.E443A	IRAK1_ENST00000429936.2_Missense_Mutation_p.E469A|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000393687.2_Missense_Mutation_p.E443A|IRAK1_ENST00000393682.1_Missense_Mutation_p.E469A|IRAK1_ENST00000369974.2_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	443	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	p.E443A(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGCCTCCTCAGCCTCCTC	0.567000													7	88					0	0	0.029380	0	0
TMEM207	131920	broad.mit.edu	37	3	190147425	190147425	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:190147425C>A	ENST00000354905.2	-	5	466	c.400G>T	c.(400-402)Ggc>Tgc	p.G134C		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	134						integral to membrane		p.G134C(1)		endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		GGTGGGGAGCCTAAAGGGCCA	0.408000													47	90					1.00776e-21	1.41738e-21	0.014410	1	0
SLC25A14	9016	broad.mit.edu	37	X	129484689	129484689	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:129484689C>T	ENST00000543953.1	+	5	426	c.377C>T	c.(376-378)cCc>cTc	p.P126L	SLC25A14_ENST00000218197.5_Missense_Mutation_p.P161L|SLC25A14_ENST00000545805.1_Missense_Mutation_p.P161L|SLC25A14_ENST00000339231.3_Missense_Mutation_p.P158L|SLC25A14_ENST00000361980.5_Missense_Mutation_p.P158L|SLC25A14_ENST00000467496.1_3'UTR			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	161					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	p.P161L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						ATAGCCAATCCCACCGATGTT	0.398000													9	90					0	0	0.013537	0	0
POLE2	5427	broad.mit.edu	37	14	50140867	50140867	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr14:50140867G>A	ENST00000539565.2	-	4	531	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C	POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000216367.5_Missense_Mutation_p.R131C|POLE2_ENST00000554396.1_Missense_Mutation_p.R131C	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	131					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	p.R131C(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					TATCGCTCACGAAACATCTCT	0.418000													23	331					0	0	0.021523	0	0
RNF213	57674	broad.mit.edu	37	17	78318726	78318726	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr17:78318726C>G	ENST00000582970.1	+	29	6734	c.6591C>G	c.(6589-6591)tgC>tgG	p.C2197W	RNF213_ENST00000336301.6_Missense_Mutation_p.C270W|RNF213_ENST00000508628.2_Missense_Mutation_p.C2246W	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	1134								p.C270W(1)|p.C2246W(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGGAGGAATGCCTCCAGCATT	0.473000													9	76					0	0	0.006214	0	0
GFRA1	2674	broad.mit.edu	37	10	117849413	117849413	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr10:117849413C>G	ENST00000439649.3	-	8	1388	c.1021G>C	c.(1021-1023)Ggc>Cgc	p.G341R	GFRA1_ENST00000544592.1_Missense_Mutation_p.G225R|GFRA1_ENST00000355422.6_Missense_Mutation_p.G346R|GFRA1_ENST00000369236.1_Missense_Mutation_p.G341R	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	346					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	p.G341R(1)		endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GAGCCATTGCCAAAGGCTTGA	0.517000													5	20					0	0	0.014758	0	0
GSDMC	56169	broad.mit.edu	37	8	130762329	130762329	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr8:130762329C>G	ENST00000276708.4	-	12	2001	c.1120G>C	c.(1120-1122)Ggt>Cgt	p.G374R		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	374						mitochondrion		p.G374R(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						ATGGCACCACCAGGGCCATCC	0.383000													8	27					0	0	0.006214	0	0
OR2T4	127074	broad.mit.edu	37	1	248525654	248525654	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:248525654C>A	ENST00000366475.1	+	1	772	c.772C>A	c.(772-774)Cac>Aac	p.H258N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H258N(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTCACCATCCACGGGATGAA	0.512000													30	99					1.06801e-11	1.41557e-11	0.041601	1	0
ANK2	287	broad.mit.edu	37	4	114195639	114195639	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr4:114195639G>T	ENST00000357077.4	+	15	1570	c.1517G>T	c.(1516-1518)cGc>cTc	p.R506L	ANK2_ENST00000264366.6_Missense_Mutation_p.R506L|ANK2_ENST00000506722.1_Missense_Mutation_p.R485L|ANK2_ENST00000394537.3_Missense_Mutation_p.R506L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	506					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R506L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATTGCCTCCCGCCTGGGTAAG	0.488000													16	49					5.35267e-07	6.47954e-07	0.043863	1	0
PDE3A	5139	broad.mit.edu	37	12	20833077	20833077	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:20833077G>A	ENST00000359062.3	+	16	3338	c.3298G>A	c.(3298-3300)Gaa>Aaa	p.E1100K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1100					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E1100K(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGCAGGCATAGAAAATCAATC	0.463000													26	95					0	0	0.041601	0	0
THOC2	57187	broad.mit.edu	37	X	122747257	122747257	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:122747257C>A	ENST00000245838.8	-	36	4701	c.4670G>T	c.(4669-4671)gGc>gTc	p.G1557V	THOC2_ENST00000464992.1_5'UTR|THOC2_ENST00000491737.1_Missense_Mutation_p.G1442V|THOC2_ENST00000355725.4_Missense_Mutation_p.G1557V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1557	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.G1557I(1)|p.G1478I(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TACCTTTTTGCCACCGGAGGA	0.284000													7	125					0.00307968	0.00327216	0.038147	1	0
OR10A5	144124	broad.mit.edu	37	11	6867752	6867752	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr11:6867752C>A	ENST00000299454.4	+	1	870	c.839C>A	c.(838-840)aCt>aAt	p.T280N	OR10A5_ENST00000379831.2_Missense_Mutation_p.T284N			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T280N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTATCCTACACTGTTGTGACT	0.433000													30	131					1.68575e-08	2.09248e-08	0.034045	1	0
KIAA2013	90231	broad.mit.edu	37	1	11985482	11985482	+	Silent	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:11985482G>A	ENST00000376572.3	-	1	998	c.813C>T	c.(811-813)aaC>aaT	p.N271N	KIAA2013_ENST00000376576.3_Silent_p.N271N	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	271						integral to membrane		p.N271N(1)		endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGGAGGCGGTTCACCAGCT	0.627000													5	28					0	0	0.014758	0	0
C11orf30	56946	broad.mit.edu	37	11	76257150	76257150	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr11:76257150G>T	ENST00000529032.1	+	19	3583	c.3583G>T	c.(3583-3585)Gca>Tca	p.A1195S	C11orf30_ENST00000533248.1_Missense_Mutation_p.A1104S|C11orf30_ENST00000524767.1_Missense_Mutation_p.A1210S|C11orf30_ENST00000334736.3_Missense_Mutation_p.A1195S|C11orf30_ENST00000524490.1_Missense_Mutation_p.A1097S|C11orf30_ENST00000525919.1_Missense_Mutation_p.A1196S|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525038.1_Missense_Mutation_p.A1196S			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1195					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.A1195S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CATGGTGGTGGCAGGGATGGC	0.498000													17	49					9.16793e-09	1.15634e-08	0.033300	1	0
PRDM16	63976	broad.mit.edu	37	1	3321339	3321339	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:3321339C>T	ENST00000378398.3	+	8	1006	c.924C>T	c.(922-924)cgC>cgT	p.R308R	PRDM16_ENST00000511072.1_Silent_p.R308R|PRDM16_ENST00000441472.2_Silent_p.R307R|PRDM16_ENST00000442529.2_Silent_p.R307R|PRDM16_ENST00000514189.1_Silent_p.R308R|PRDM16_ENST00000270722.5_Silent_p.R307R|PRDM16_ENST00000378391.2_Silent_p.R307R|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	307					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.R307R(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGGAGGAGCGCGAGTACAAAT	0.627000			T	EVI1	"""MDS, AML"""								4	35					0	0	0.009096	0	0
PREX1	57580	broad.mit.edu	37	20	47296204	47296204	+	Silent	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr20:47296204C>T	ENST00000396220.1	-	12	1546	c.1524G>A	c.(1522-1524)gaG>gaA	p.E508E	PREX1_ENST00000371941.3_Silent_p.E508E			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	508					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.E508E(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACATGATGTCCTCCAGCTCAC	0.597000													7	48					0	0	0.038147	0	0
SCNM1	79005	broad.mit.edu	37	1	151138661	151138661	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:151138661T>A	ENST00000368905.4	+	1	144	c.33T>A	c.(31-33)agT>agA	p.S11R	SCNM1_ENST00000461862.1_3'UTR	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	11					mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding	p.S11R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACGATTGGAGTCAACTCAATG	0.522000													6	8					0	0	0.029380	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334309	37334309	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr22:37334309G>A	ENST00000262825.5	+	14	2694	c.2477G>A	c.(2476-2478)gGc>gAc	p.G826D	CSF2RB_ENST00000406230.1_Missense_Mutation_p.G826D|CSF2RB_ENST00000536485.1_Missense_Mutation_p.G767D|CSF2RB_ENST00000403662.3_Missense_Mutation_p.G820D	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	820					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	p.G820D(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CAGCAAGTGGGCGACTATTGC	0.647000													27	119					0	0	0.030593	0	0
NIN	51199	broad.mit.edu	37	14	51259545	51259545	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr14:51259545C>T	ENST00000245441.5	-	5	510	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	NIN_ENST00000486200.1_5'UTR|NIN_ENST00000324330.9_Missense_Mutation_p.R107Q|NIN_ENST00000530997.2_Missense_Mutation_p.R107Q|NIN_ENST00000453196.1_Missense_Mutation_p.R107Q|NIN_ENST00000389868.3_Missense_Mutation_p.R107Q|NIN_ENST00000382043.4_Missense_Mutation_p.R107Q|NIN_ENST00000382041.3_Missense_Mutation_p.R107Q	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	107					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	p.R107Q(2)|p.R113Q(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CAAGGACCTTCGTCCGTAACG	0.532000			T	PDGFRB	MPD								11	34					0	0	0.008291	0	0
NEU2	4759	broad.mit.edu	37	2	233899563	233899563	+	Silent	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:233899563G>A	ENST00000233840.3	+	2	939	c.939G>A	c.(937-939)ccG>ccA	p.P313P		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	313							exo-alpha-sialidase activity	p.P313P(1)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		ACCTCAACCCGCGACCTCCAG	0.692000													14	72					0	0	0.033300	0	0
FAM3C	10447	broad.mit.edu	37	7	121023022	121023022	+	Translation_Start_Site	SNP	A	A	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr7:121023022A>G	ENST00000359943.3	-	2	215	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	1					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity	p.M1T(1)		kidney(1)|lung(8)	9	all_neural(327;0.117)					TGCTACCCTCATGTTTGGTTT	0.289000													6	121					0	0	0.038147	0	0
TRIM58	25893	broad.mit.edu	37	1	248028156	248028156	+	Silent	SNP	G	G	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:248028156G>T	ENST00000366481.3	+	3	714	c.666G>T	c.(664-666)ctG>ctT	p.L222L		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	222						intracellular	zinc ion binding	p.L222P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGAGCCGGCTGGTCCAGCAGA	0.687000													4	13					0.000602214	0.000670843	0.014758	1	0
TEC	7006	broad.mit.edu	37	4	48170630	48170630	+	Silent	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr4:48170630T>A	ENST00000381501.3	-	6	625	c.468A>T	c.(466-468)gcA>gcT	p.A156A		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	156					intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.A156A(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTGGAGGTAGTGCTTTTCTTA	0.313000													15	94					0	0	0.028581	0	0
VSIG10	54621	broad.mit.edu	37	12	118506200	118506200	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:118506200C>T	ENST00000359236.5	-	8	1825	c.1549G>A	c.(1549-1551)Gga>Aga	p.G517R		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	517						integral to membrane		p.G517R(1)		endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TCCTGGAATCCATTTCCCATC	0.438000													13	131					0	0	0.020292	0	0
KIAA0355	9710	broad.mit.edu	37	19	34791643	34791643	+	Missense_Mutation	SNP	G	G	A	rs149799888		TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:34791643G>A	ENST00000299505.6	+	2	1138	c.265G>A	c.(265-267)Gtc>Atc	p.V89I		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	89								p.V89I(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TGCCCTGAACGTCTTCTGCCG	0.552000													14	50					0	0	0.024245	0	0
TTC23L	153657	broad.mit.edu	37	5	34863158	34863158	+	Splice_Site	SNP	C	C	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr5:34863158C>A	ENST00000505624.1	+	5	638	c.536_splice	c.e5+1	p.R179_splice	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	179							binding	p.R179S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						CCTGCAGAACCGATATCCTTC	0.537000													26	75					1.88708e-17	2.58895e-17	0.037714	1	0
ADCY10	55811	broad.mit.edu	37	1	167823640	167823640	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:167823640T>A	ENST00000367848.1	-	18	2480	c.1983A>T	c.(1981-1983)caA>caT	p.Q661H	ADCY10_ENST00000545172.1_Missense_Mutation_p.Q600H|ADCY10_ENST00000367851.4_Missense_Mutation_p.Q753H			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	753					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.Q753H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACTCCGTTTGTTGGAAAACGA	0.433000													33	106					0	0	0.012213	0	0
AMY2B	280	broad.mit.edu	37	1	104121933	104121933	+	Splice_Site	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:104121933G>A	ENST00000361355.4	+	12	1963	c.1346_splice	c.e12-1	p.W449_splice	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	449					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.W449*(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TATTTTACAGGACATTTTCTT	0.333000													37	311					0	0	0.030466	0	0
LARP6	55323	broad.mit.edu	37	15	71128813	71128813	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr15:71128813G>A	ENST00000299213.8	-	2	302	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	78					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	p.R78C(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGGTCCTCACGCTCGTTCTCA	0.507000													11	87					0	0	0.008291	0	0
WDR72	256764	broad.mit.edu	37	15	53907714	53907714	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr15:53907714C>G	ENST00000396328.1	-	15	2928	c.2689G>C	c.(2689-2691)Gag>Cag	p.E897Q	WDR72_ENST00000557913.1_Missense_Mutation_p.E894Q|WDR72_ENST00000360509.5_Missense_Mutation_p.E897Q|WDR72_ENST00000559418.1_Missense_Mutation_p.E907Q	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	897								p.E897Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTATCTGACTCTCGCAAAGAA	0.348000													14	44					0	0	0.024245	0	0
TTN	7273	broad.mit.edu	37	2	179415750	179415750	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:179415750C>G	ENST00000589042.1	-	336	91732	c.91508G>C	c.(91507-91509)gGa>gCa	p.G30503A	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27935A|TTN_ENST00000342175.6_Missense_Mutation_p.G21630A|TTN_ENST00000359218.5_Missense_Mutation_p.G21563A|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G21438A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G28862A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28862	Fibronectin type-III 122.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G21438A(1)|p.G27935A(1)|p.G21563A(1)|p.G27933A(1)|p.G21630A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTATAGTTCCAACAGCATT	0.408000													6	32					0	0	0.021553	0	0
ABCB4	5244	broad.mit.edu	37	7	87104728	87104728	+	Silent	SNP	C	C	T	rs141141860		TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr7:87104728C>T	ENST00000265723.4	-	2	165	c.54G>A	c.(52-54)gaG>gaA	p.E18E	ABCB4_ENST00000545634.1_Silent_p.E18E|ABCB4_ENST00000453593.1_Silent_p.E18E|ABCB4_ENST00000359206.3_Silent_p.E18E|ABCB4_ENST00000358400.3_Silent_p.E18E	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	18					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.E18E(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CAAAGTCGCCCTCCGCGCTCG	0.567000													9	51					0	0	0.006214	0	0
CSMD1	64478	broad.mit.edu	37	8	3000195	3000195	+	Splice_Site	SNP	A	A	T			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr8:3000195A>T	ENST00000520002.1	-	42	6591	c.6034_splice	c.e42-1	p.G2012_splice	CSMD1_ENST00000602723.1_Splice_Site_p.G2012_splice|CSMD1_ENST00000400186.3_Splice_Site_p.G2012_splice|CSMD1_ENST00000602557.1_Splice_Site_p.G2012_splice|CSMD1_ENST00000542608.1_Splice_Site_p.G2011_splice|CSMD1_ENST00000539096.1_Splice_Site_p.G2011_splice|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Splice_Site_p.G2011_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2012	CUB 12.					integral to membrane		p.G2011G(1)|p.G1740G(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAATATGTGCACCTATGGAAA	0.358000													19	95					0	0	0.038395	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133114	91133114	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:91133114C>G	ENST00000373094.1	+	2	2720	c.1875C>G	c.(1873-1875)atC>atG	p.I625M	PCDH11X_ENST00000373088.1_Missense_Mutation_p.I625M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.I625M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.I625M|PCDH11X_ENST00000361724.1_Missense_Mutation_p.I625M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.I625M|PCDH11X_ENST00000373097.1_Missense_Mutation_p.I625M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.I625M|PCDH11X_ENST00000504220.1_Missense_Mutation_p.I625M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	625	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.I625M(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGGTGTCATCCGACCAAATA	0.383000													5	41					0	0	0.038395	0	0
ABCA8	10351	broad.mit.edu	37	17	66902272	66902272	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr17:66902272G>C	ENST00000269080.2	-	17	2328	c.2191C>G	c.(2191-2193)Cta>Gta	p.L731V	ABCA8_ENST00000586539.1_Missense_Mutation_p.L771V|ABCA8_ENST00000430352.2_Missense_Mutation_p.L771V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	731						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.L731V(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCAATTCCTAGGTCAGGATAG	0.318000													13	100					0	0	0.013537	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858747	149858749	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr1:149858747_149858749delAAG	ENST00000331380.2	+	1	223_225	c.223_225delAAG	c.(223-225)del	p.K76del		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	76					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TCGGGACAACAAGAAGACGCGCA	0.670													12	70	---	---	---	---					
SIX2	10736	broad.mit.edu	37	2	45233433	45233433	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr2:45233433delC	ENST00000303077.6	-	2	1071	c.752delG	c.(751-753)gcfs	p.G251fs		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	251						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCGCTGGGGCCCGGAGGGTG	0.711													11	39	---	---	---	---					
THUMPD3	25917	broad.mit.edu	37	3	9413088	9413088	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:9413088delG	ENST00000345094.3	+	4	1009	c.675delG	c.(673-675)ctfs	p.L225fs	THUMPD3_ENST00000452837.2_Frame_Shift_Del_p.L225fs|THUMPD3_ENST00000515662.2_Frame_Shift_Del_p.L225fs|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	225	THUMP.						methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		CTCAAGTGCTGAAGTTTAGAG	0.403													7	110	---	---	---	---					
LOC101243545	101243545	broad.mit.edu	37	3	161146872	161146873	+	RNA	DEL	AT	AT	-			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231					NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342													2	4	---	---	---	---					
HCN1	348980	broad.mit.edu	37	5	45645511	45645511	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr5:45645511delC	ENST00000303230.4	-	2	682	c.625delG	c.(625-627)acfs	p.D209fs		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	209						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACTTTGGGGTCCAGGATGATT	0.368													22	80	---	---	---	---					
PCDHGB2	56103	broad.mit.edu	37	5	140741751	140741751	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr5:140741751delC	ENST00000522605.1	+	1	2049	c.2049delC	c.(2047-2049)gafs	p.D683fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCTCTGACCCCCAGGCAA	0.607													22	57	---	---	---	---					
C6orf89	221477	broad.mit.edu	37	6	36867370	36867371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr6:36867370_36867371insC	ENST00000480824.2	+	3	444_445	c.150_151insC	c.(148-153)agccccfs	p.SP50fs	C6orf89_ENST00000373685.1_Frame_Shift_Ins_p.SP50fs|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000355190.3_Frame_Shift_Ins_p.SP57fs|C6orf89_ENST00000359359.2_5'UTR			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	50						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AACCTCAGAGACCCCCCCCGCA	0.431													19	54	---	---	---	---					
ATN1	1822	broad.mit.edu	37	12	7045534	7045535	+	Frame_Shift_Ins	INS	-	-	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr12:7045534_7045535insC	ENST00000356654.4	+	5	1341_1342	c.1104_1105insC	c.(1102-1107)gcccccfs	p.AP368fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.AP368fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	368					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTGCTCCAGCGCCCCCCATGAG	0.589													44	139	---	---	---	---					
SNORD3B-1	26851	broad.mit.edu	37	17	18965364	18965373	+	RNA	DEL	GCAACTGCCG	GCAACTGCCG	-			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr17:18965364_18965373delGCAACTGCCG	ENST00000363359.1	+	0	140_149																											ttgcttggctgcaactgccgtcagccattg	0.519													5	6	---	---	---	---					
AP2A1	160	broad.mit.edu	37	19	50306261	50306261	+	Splice_Site	DEL	A	A	-			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr19:50306261delA	ENST00000354293.5	+	16	2336	c.2171_splice	c.e16+1	p.K724_splice	AP2A1_ENST00000359032.5_Splice_Site_p.K746_splice	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	746					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GTTGCTGAATAAGTGAGTCCT	0.647													8	27	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579													3	3	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-50-6592-01A-11D-1753-08	TCGA-50-6592-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0303d05-a937-4a7d-9934-ffa93cc1c5de	a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													8	217	---	---	---	---					
